ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met) (rs201203036)

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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 RCV000727020 SCV000704986 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383860 SCV000374282 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270954 SCV000374283 uncertain significance Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000326027 SCV000374284 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036084 SCV000059736 uncertain significance not specified 2018-08-09 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Leu765Met var iant in MYO7A has been previously identified by our laboratory in 5 individuals with hearing loss; however, a variant affecting the other copy of MYO7A was not identified in any of these individuals. This variant has also been reported in C linVar (Variation ID 43180) and has been identified in 56/121520 European chromo somes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.o rg). Computational prediction tools and conservation analysis do not provide sup port for or against an impact the protein. In summary, while the clinical signif icance of the p.Leu765Met variant is uncertain, its frequency suggests it is mor e likely to be benign. ACMG/AMP Criteria applied: BS1_Supporting.

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