ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.338_348dup (p.Glu117fs)

dbSNP: rs1064793208
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485760 SCV000565297 pathogenic not provided 2015-09-09 criteria provided, single submitter clinical testing The c.338_348dup11 frameshift variant in the MYO7A gene has been reported previously in association with Usher syndrome (Le Quesne Stabej et al., 2012). The c.338_348dup11 duplication in the MYO7A gene causes a frameshift starting with codon Glutamic acid 117, changes this amino acid to a Serine residue and creates a premature Stop codon at position 33 of the new reading frame, denoted p.Glu117SerfsX33. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore we interpret c.338_348dup11 to be a pathogenic variant.
Invitae RCV000485760 SCV003440350 pathogenic not provided 2022-04-10 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: 418366). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 22135276). This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Glu117Serfs*33) 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).

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