ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.905G>A (p.Arg302His) (rs41298135)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Hearing Loss Variant Curation Expert Panel, RCV000758141 SCV000886633 likely benign Usher syndrome 2018-10-22 reviewed by expert panel curation The filtering allele frequency of the c.905G>A (p.Arg302His) variant in the MYO7A gene is 0.4% for European chromosomes by gnomAD (587/126276 with 95% CI), which is a high enough frequency to be classified as likely benign based on the thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal recessive hearing loss variants (BS1). While this variant has been reported in several individuals with Usher syndrome, in 2 individuals it was identified in cis with another pathogenic MYO7A variant (BP2; PMID 8900236). This variant has also been reported in at least 2 additional individuals with Usher syndrome who had alternate genetic etiologies identified (PMID: 25468891). In addition, in vitro functional evidence from one study suggests that the Arg302His variant had little effect on motor activity of MYO7A (BS3_Supporting PMID: 18700726). In summary, this variant meets criteria to be classified as likely benign. ACMG/AMP criteria applied, as specified by the Hearing Loss Expert Panel : BS1, BP2, BS3_Supporting.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036251 SCV000232931 likely benign not specified 2014-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000835045 SCV000976822 likely benign not provided 2018-05-30 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.
Illumina Clinical Services Laboratory,Illumina RCV000386045 SCV000374225 likely benign Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282374 SCV000374226 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337254 SCV000374227 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036251 SCV000059903 benign not specified 2010-05-06 criteria provided, single submitter clinical testing This variant has been identified in 4.2% of controls(rs41298135) and functional studies do not show an impact to protein function (Watanabe 2008).
OMIM RCV000012626 SCV000032861 pathogenic Usher syndrome, type 1B 1996-11-01 no assertion criteria provided literature only

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