ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5215C>T (p.Arg1739Ter)

dbSNP: rs111033477
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000815067 SCV000955510 pathogenic not provided 2023-05-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 658273). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 16963483, 27957503). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg1739*) 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).
Blueprint Genetics RCV001075462 SCV001241085 likely pathogenic Retinal dystrophy 2018-10-09 criteria provided, single submitter clinical testing
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814241 SCV001755556 pathogenic Ear malformation 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000815067 SCV002504166 pathogenic not provided 2020-07-06 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25525159, 16963483, 31850270, 27957503, 30358468)
Fulgent Genetics, Fulgent Genetics RCV002501115 SCV002794312 pathogenic Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2021-12-17 criteria provided, single submitter clinical testing
Dr.Nikuei Genetic Center RCV004698520 SCV005200345 pathogenic Autosomal recessive nonsyndromic hearing loss 2 2024-07-10 criteria provided, single submitter clinical testing

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