ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) (rs373147966)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Hearing Loss Variant Curation Expert Panel RCV001171544 SCV001334330 uncertain significance Usher syndrome 2020-05-20 reviewed by expert panel curation The c.3527G>A (p.Ser1176Asn) variant in MYO7A was present in 0.057% (lower bound of the 95% CI of 33/42036) of African alleles in gnomAD v3 (BS1_Supporting not met). It has been observed in at least 3 individuals with Usher syndrome type 1. However, in one proband the p.Ser1176Asn variant was observed in cis with another pathogenic/likely pathogenic variant in MYO7A (BP2; PMID: 26969326). The remaining probands did not have other pathogenic or likely pathogenic variants in MYO7A identified (PM3 and PP4 not met; PMID: 27344577, 27460420, 31479088). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the Hearing Loss Expert Panel: BP2.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724054 SCV000228596 uncertain significance not provided 2014-07-29 criteria provided, single submitter clinical testing
GeneDx RCV000176841 SCV000714448 likely benign not specified 2017-12-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Counsyl RCV000665185 SCV000789259 uncertain significance Deafness, autosomal recessive 2; Usher syndrome type 1 2017-01-20 criteria provided, single submitter clinical testing
Mendelics RCV000988610 SCV001138389 likely pathogenic Usher syndrome type 1 2020-04-17 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073919 SCV001239484 uncertain significance Retinal dystrophy 2018-06-19 criteria provided, single submitter clinical testing

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