U.S. flag

An official website of the United States government

NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro) AND Rare genetic deafness

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 26, 2012
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000036037.5

Allele description [Variation Report for NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro)]

NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro)

Gene:
MYO7A:myosin VIIA [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.5
Genomic location:
Preferred name:
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro)
HGVS:
  • NC_000011.10:g.77160179T>C
  • NG_009086.2:g.36934T>C
  • NM_000260.4:c.1097T>CMANE SELECT
  • NM_001127180.2:c.1097T>C
  • NM_001369365.1:c.1064T>C
  • NP_000251.3:p.Leu366Pro
  • NP_001120652.1:p.Leu366Pro
  • NP_001356294.1:p.Leu355Pro
  • LRG_1420t1:c.1097T>C
  • LRG_1420:g.36934T>C
  • LRG_1420p1:p.Leu366Pro
  • NC_000011.9:g.76871225T>C
  • NG_009086.1:g.36916T>C
  • NM_000260.3:c.1097T>C
  • c.1097T>C
Protein change:
L355P
Links:
dbSNP: rs397516281
NCBI 1000 Genomes Browser:
rs397516281
Molecular consequence:
  • NM_000260.4:c.1097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127180.2:c.1097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369365.1:c.1064T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Name:
Rare genetic deafness
Identifiers:
MedGen: C5680250; Orphanet: 96210

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
SCV000059689Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)
Likely pathogenic
(Jul 26, 2012)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided32not providednot providednot providedclinical testing

Citations

PubMed

MYO7A mutation screening in Usher syndrome type I patients from diverse origins.

Jaijo T, Aller E, Beneyto M, Najera C, Graziano C, Turchetti D, Seri M, Ayuso C, Baiget M, Moreno F, Morera C, Perez-Garrigues H, Millan JM.

J Med Genet. 2007 Mar;44(3):e71. No abstract available.

PubMed [citation]
PMID:
17361009
PMCID:
PMC2598023

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

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000059689.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (2)

Description

The Leu366Pro variant in MYO7A has been reported in trans with likely pathogenic MYO7A variants in two probands with Usher syndrome type I (Jaijo 2007; LMM unpu blished data). In addition, it was absent from >8,000 European American chromoso mes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs .washington.edu/EVS/). In summary, this variant is likely pathogenic, though add itional studies are required to fully establish its clinical significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided3not provided2not provided

Last Updated: Jan 13, 2025