NM_004006.3(DMD):c.1718C>T (p.Ala573Val) AND not specified

Germline classification:: Benign/Likely benign (3 submissions)
Last evaluated:: Aug 19, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000213171.7

Allele description [Variation Report for NM_004006.3(DMD):c.1718C>T (p.Ala573Val)]

NM_004006.3(DMD):c.1718C>T (p.Ala573Val)

Gene:

DMD:dystrophin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp21.1

Genomic location:

Preferred name:

NM_004006.3(DMD):c.1718C>T (p.Ala573Val)

HGVS:

NC_000023.11:g.32573624G>A
NG_012232.1:g.770986C>T
NM_000109.4:c.1694C>T
NM_004006.3:c.1718C>TMANE SELECT
NM_004009.3:c.1706C>T
NM_004010.3:c.1349C>T
NP_000100.3:p.Ala565Val
NP_003997.1:p.Ala573Val
NP_003997.2:p.Ala573Val
NP_004000.1:p.Ala569Val
NP_004001.1:p.Ala450Val
LRG_199t1:c.1718C>T
LRG_199:g.770986C>T
LRG_199p1:p.Ala573Val
NC_000023.10:g.32591741G>A
NM_004006.2:c.1718C>T

Protein change:

A450V

Links:

dbSNP: rs5972599

NCBI 1000 Genomes Browser:

rs5972599

Molecular consequence:

NM_000109.4:c.1694C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_004006.3:c.1718C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_004009.3:c.1706C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_004010.3:c.1349C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000268946	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Jan 13, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001475841	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Feb 13, 2020)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 19937601, 26467025
SCV004038122	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Likely benign (Aug 19, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000268946

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Benign
(Jan 13, 2015)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001475841

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(Feb 13, 2020)

unknown

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV004038122

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Likely benign
(Aug 19, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	5	5	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.

Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Gappmaier E, Howard MT, Sampson JB, Mendell JR, Wall C, King WM, Pestronk A, Florence JM, Connolly AM, Mathews KD, Stephan CM, Laubenthal KS, Wong BL, Morehart PJ, Meyer A, Finkel RS, Bonnemann CG, Medne L, et al.

Hum Mutat. 2009 Dec;30(12):1657-66. doi: 10.1002/humu.21114.

PubMed [citation]

PMID:: 19937601
PMCID:: PMC3404892

See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000268946.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	5	not provided	not provided	clinical testing	PubMed (1)

Description

p.Ala573Val in exon 15 of DMD: This variant is not expected to have clinical sig nificance because it has been identified in 1.4% (55/3831) of African American c hromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/E VS/; dbSNP rs5972599).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		5	not provided	5	not provided

From Athena Diagnostics, SCV001475841.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004038122.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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