ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5108C>T (p.Ala1703Val) (rs199561332)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724217 SCV000229850 uncertain significance not provided 2014-11-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000404997 SCV000374420 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000306975 SCV000374421 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366371 SCV000374422 uncertain significance Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036176 SCV000059828 uncertain significance not specified 2017-12-21 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ala1703Val va riant in MYO7A has been previously reported by our laboratory in the heterozygou s state in 2 individuals with hearing loss, but a variant affecting the remainin g copy of the gene was not identified in either and an alternate etiology was fo und in one of them. It has been identified in 0.18% (16/8844) of Ashkenazi Jewis h chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadins titute.org/; dbSNP rs199561332) and is reported in ClinVar (variation ID: 43271) . Computational prediction tools and conservation analysis suggest that the p.Al a1703Val variant may not impact the protein, though this information is not pred ictive enough to rule out pathogenicity. In summary, while the clinical signific ance of the p.Ala1703Val variant is uncertain, these data suggest that it is mor e likely to be benign. ACMG/AMP Criteria applied: BP4.

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