ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2914C>T (p.Arg972Ter)

dbSNP: rs782281371
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001060271 SCV001224948 pathogenic not provided 2023-07-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg972*) 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). This variant is present in population databases (rs782281371, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 18181211). ClinVar contains an entry for this variant (Variation ID: 855092). For these reasons, this variant has been classified as Pathogenic.
3billion RCV001809972 SCV002058309 pathogenic Usher syndrome type 1 2022-01-03 criteria provided, single submitter clinical testing Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS).The variant has been reported to be associated with MYO7A related disorder (ClinVar ID: VCV000855092, PMID:18181211, 3billion dataset). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000004, PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Fulgent Genetics, Fulgent Genetics RCV002497440 SCV002810288 likely pathogenic Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2022-03-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832540 SCV002086648 pathogenic Usher syndrome type 1B 2020-10-02 no assertion criteria provided clinical testing

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