ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter) (rs35689081)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154341 SCV000204004 pathogenic Rare genetic deafness 2017-08-03 criteria provided, single submitter clinical testing The p.Cys31X variant in MYO7A has been reported in at least 9 individuals with U sher syndrome type I, many of whom were either homozygous for this variant or co mpound heterozygous with a second pathogenic variant (Weston 1996, Janecke 1999, Jacobson 2008, Tranebj?rg 2011). It has been identified in 10/123920 European c hromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstit; dbSNP rs35689081); this frequency in the general population is consist ent with a carrier frequency for autosomal recessive Usher syndrome. This nonsen se variant leads to a premature stop codon at position 31, which is predicted to lead to a truncated or absent protein. In summary, this variant meets criteria to be classified as pathogenic for autosomal recessive Usher syndrome based upon its predicted impact and biallelic presence in previously reported affected ind ividuals.
Counsyl RCV000665804 SCV000789982 pathogenic Deafness, autosomal recessive 2; Usher syndrome type 1 2017-03-22 criteria provided, single submitter clinical testing
Invitae RCV001226256 SCV001398563 pathogenic not provided 2019-08-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys31*) in the MYO7A gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs35689081, ExAC 0.01%). This variant has been observed in several individuals affected with Usher syndrome (PMID: 27957503, 10094549, 8900236, 19074810) and may be a founder variant in the Danish population (PMID: 27957503). ClinVar contains an entry for this variant (Variation ID: 11859). Loss-of-function variants in MYO7A are known to be pathogenic (PMID: 8900236, 25404053). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000012634 SCV000032869 pathogenic Usher syndrome, type 1B 1999-01-01 no assertion criteria provided literature only
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787856 SCV000926871 pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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