ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3628A>T (p.Lys1210Ter)

dbSNP: rs878853376
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001385689 SCV001585638 pathogenic not provided 2023-06-09 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.0009%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 236485). This premature translational stop signal has been observed in individual(s) with clinical features of Usher syndrome (PMID: 27208204). This sequence change creates a premature translational stop signal (p.Lys1210*) in the MYO7A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MYO7A are known to be pathogenic (PMID: 8900236, 25404053).
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV000225423 SCV000282592 likely pathogenic Retinal dystrophy no assertion criteria provided clinical testing

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