ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2307del (p.Asn769fs) (rs1060499800)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001043738 SCV001207498 pathogenic not provided 2019-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn769Lysfs*5) in the MYO7A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of Usher syndrome (PMID: 23882135, 29490346). This variant is also known as c.2308delC in the literature. ClinVar contains an entry for this variant (Variation ID: 402264). Loss-of-function variants in MYO7A are known to be pathogenic (PMID: 8900236, 25404053). For these reasons, this variant has been classified as Pathogenic.
Hereditary Research Laboratory,Bethlehem University RCV000454349 SCV000538102 pathogenic Deafness, autosomal recessive 2 2016-06-04 no assertion criteria provided research severe to profound, GU3 vision OK but balance problems
Sharon lab,Hadassah-Hebrew University Medical Center RCV001003086 SCV001161145 pathogenic Usher syndrome type 1 2019-06-23 no assertion criteria provided research

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