ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter)

gnomAD frequency: 0.00001  dbSNP: rs111033198
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000844725 SCV000059875 pathogenic Rare genetic deafness 2011-07-26 criteria provided, single submitter clinical testing The Arg2024X variant in MYO7A has been reported in one proband with Usher syndro me who was compound heterozygous with a second pathogenic MYO7A variant (Jacobso n 2008). In addition, the Arg2024X variant leads to a premature stop codon at po sition 2024, which is predicted to lead to a truncated or absent protein. In sum mary, this variant meets our criteria to be classified as pathogenic.
Counsyl RCV000665987 SCV000790213 pathogenic Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2017-03-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001210670 SCV001382167 pathogenic not provided 2023-09-04 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: 43318). This premature translational stop signal has been observed in individuals with Usher syndrome (PMID: 19074810, 22135276, 30459346). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg2024*) 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).
MGZ Medical Genetics Center RCV000036223 SCV002581697 pathogenic Usher syndrome type 1 2022-07-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496554 SCV002811184 pathogenic Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2021-10-26 criteria provided, single submitter clinical testing
GeneDx RCV001210670 SCV005201909 pathogenic not provided 2023-12-28 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; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 22135276, 34039936, 30459346, 29416772, 36240775, 31479088, 32981126, 19074810, 21569298, 31266775, 26969326)
GeneReviews RCV000036223 SCV000268746 not provided Usher syndrome type 1 no assertion provided literature only

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