ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5428A>T (p.Lys1810Ter)

dbSNP: rs778009227
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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 RCV001383416 SCV001582557 pathogenic not provided 2023-11-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys1810*) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autosomal recessive Usher syndrome (PMID: 27583663). ClinVar contains an entry for this variant (Variation ID: 1071057). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001383416 SCV003924609 pathogenic not provided 2023-05-08 criteria provided, single submitter clinical testing Identified with a second MYO7A variant in a patient with Usher syndrome in published literature (Wafa et al., 2021); Observed with a pathogenic variant on the opposite allele (in trans) in siblings with congenital sensorineural hearing loss referred for genetic testing at GeneDx; 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; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 27583663, 34948090, 33089500)
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815517 SCV005068557 pathogenic Retinal dystrophy 2021-01-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004596451 SCV005088726 pathogenic Usher syndrome type 1 2021-06-23 criteria provided, single submitter clinical testing This variant was previously reported a patient affected with Usher syndrome [PMID: 27583663]. Loss-of-function variants in the MYO7A gene are known to be pathogenic [PMID: 8900236, 25404053].
Fulgent Genetics, Fulgent Genetics RCV005005916 SCV005629475 pathogenic Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2024-04-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826164 SCV002088504 pathogenic Usher syndrome type 1B 2020-11-16 no assertion criteria provided clinical testing

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