U.S. flag

An official website of the United States government

NM_000252.3(MTM1):c.614C>T (p.Pro205Leu) AND not provided

Germline classification:
Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:
Jun 28, 2021
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:
RCV001564887.6

Allele description [Variation Report for NM_000252.3(MTM1):c.614C>T (p.Pro205Leu)]

NM_000252.3(MTM1):c.614C>T (p.Pro205Leu)

Gene:
MTM1:myotubularin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000252.3(MTM1):c.614C>T (p.Pro205Leu)
HGVS:
  • NC_000023.11:g.150641354C>T
  • NG_008199.1:g.77781C>T
  • NM_000252.3:c.614C>TMANE SELECT
  • NM_001376906.1:c.614C>T
  • NM_001376907.1:c.503C>T
  • NM_001376908.1:c.614C>T
  • NP_000243.1:p.Pro205Leu
  • NP_000243.1:p.Pro205Leu
  • NP_001363835.1:p.Pro205Leu
  • NP_001363836.1:p.Pro168Leu
  • NP_001363837.1:p.Pro205Leu
  • LRG_839t1:c.614C>T
  • LRG_839:g.77781C>T
  • LRG_839p1:p.Pro205Leu
  • NC_000023.10:g.149809827C>T
  • NM_000252.2:c.614C>T
  • Q13496:p.Pro205Leu
Protein change:
P168L
Links:
UniProtKB: Q13496#VAR_006393; dbSNP: rs587783841
NCBI 1000 Genomes Browser:
rs587783841
Molecular consequence:
  • NM_000252.3:c.614C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376906.1:c.614C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376907.1:c.503C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376908.1:c.614C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001788127GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Pathogenic
(Jun 28, 2021)
germlineclinical testing

Citation Link,

SCV004238294Revvity Omics, Revvity
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Mar 1, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From GeneDx, SCV001788127.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Published functional studies suggest that P205L disrupts phosphatase activity (Taylor et al., 2000); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 11793470, 27535533, 10900271, 15725586, 10063835, 30047259, 28685322, 8640223)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Revvity Omics, Revvity, SCV004238294.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 16, 2024