ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3764del (p.Lys1255fs)

dbSNP: rs111033347
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Total submissions: 9
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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 RCV000844720 SCV000059779 pathogenic Rare genetic deafness 2011-07-26 criteria provided, single submitter clinical testing The Lys1255fs variant in MYO7A has been reported in two probands with Usher synd rome who were each compound heterozygous with a second pathogenic MYO7A variant (Roux 2011, Jaijo 2007). In addition, the Lys1255fs variant is predicted to caus e a frameshift, which alters the protein's amino acid sequence beginning at codo n 1255 and leads to a premature stop codon 8 codons downstream. This alteration is then predicted to lead to a truncated or absent protein. In summary, this var iant meets our criteria to be classified as pathogenic.
Counsyl RCV000036127 SCV000487456 likely pathogenic Usher syndrome type 1 2016-11-02 criteria provided, single submitter clinical testing
Counsyl RCV000412422 SCV000487457 likely pathogenic Autosomal recessive nonsyndromic hearing loss 2 2016-11-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV000036127 SCV001163350 pathogenic Usher syndrome type 1 criteria provided, single submitter clinical testing
GeneDx RCV001785455 SCV002027941 pathogenic not provided 2021-11-05 criteria provided, single submitter clinical testing Frameshift 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 (Lek et al., 2016); This variant is associated with the following publications: (PMID: 27460420, 30337596, 17361009, 26969326, 21436283, 28041643, 31589614, 32581362, 33576163, 31479088)
Labcorp Genetics (formerly Invitae), Labcorp RCV001785455 SCV002230098 pathogenic not provided 2023-11-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys1255Argfs*8) 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 clinical features of autosomal recessive MYO7A-related conditions (PMID: 17361009, 26969326, 27460420, 30337596, 31479088). This variant is also known as c.3763del. ClinVar contains an entry for this variant (Variation ID: 43223). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002496551 SCV002811553 pathogenic Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2021-09-22 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505077 SCV000599123 pathogenic Usher syndrome 2015-01-01 no assertion criteria provided research
Natera, Inc. RCV001835643 SCV002086683 pathogenic Usher syndrome type 1B 2020-12-07 no assertion criteria provided clinical testing

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