NM_000260.4(MYO7A):c.689C>T (p.Ala230Val) AND Rare genetic deafness

Clinical significance:Pathogenic (Last evaluated: Jun 11, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000155771.1

Allele description [Variation Report for NM_000260.4(MYO7A):c.689C>T (p.Ala230Val)]

NM_000260.4(MYO7A):c.689C>T (p.Ala230Val)

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.689C>T (p.Ala230Val)
HGVS:
  • NC_000011.10:g.77156958C>T
  • NG_009086.1:g.33695C>T
  • NG_009086.2:g.33713C>T
  • NM_000260.4:c.689C>TMANE SELECT
  • NM_001127180.2:c.689C>T
  • NM_001369365.1:c.656C>T
  • NP_000251.3:p.Ala230Val
  • NP_001120652.1:p.Ala230Val
  • NP_001356294.1:p.Ala219Val
  • LRG_1420t1:c.689C>T
  • LRG_1420:g.33713C>T
  • LRG_1420p1:p.Ala230Val
  • NC_000011.9:g.76868004C>T
  • NM_000260.3:c.689C>T
Protein change:
A219V
Links:
dbSNP: rs797044512
NCBI 1000 Genomes Browser:
rs797044512
Molecular consequence:
  • NM_000260.4:c.689C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127180.2:c.689C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369365.1:c.656C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Rare genetic deafness
Identifiers:
MedGen: CN826980; Orphanet: 96210

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000205482Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Pathogenic
(Jun 11, 2013)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11).

Di Leva F, D'Adamo P, Cubellis MV, D'Eustacchio A, Errichiello M, Saulino C, Auletta G, Giannini P, Donaudy F, Ciccodicola A, Gasparini P, Franzè A, Marciano E.

Audiol Neurootol. 2006;11(3):157-64. Epub 2006 Jan 9.

PubMed [citation]
PMID:
16449806

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, Partners HealthCare Personalized Medicine, SCV000205482.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

The Ala230Val variant in MYO7A has been reported in a large Italian pedigree aff ected with nonsyndromic post-lingual progressive hearing loss showing autosomal dominant inheritance(Di Leva 2006). The variant co-segregated with hearing loss in several affected family members, and was not identified in unaffected family members or in 200 ethnically matched control chromosomes (Di Leva 2006). In addi tion, this variant was not identified in large population studies. Furthermore, the alanine (Ala) residue at position 230 is located in the conserved motor doma in of the MYO7A protein. Missense variants in this region of the protein have be en associated with autosomal dominant hearing loss. In summary, this variant mee ts our criteria to be classified as pathogenic (http://pcpgm.partners.org/LMM) b ased upon segregation analysis.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Nov 27, 2021

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