ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2661TCT[1] (p.Leu889del)

dbSNP: rs1474458620
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669821 SCV000794609 uncertain significance Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A 2017-10-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001322742 SCV001513629 uncertain significance not provided 2022-08-09 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change creates a premature translational stop signal (p.Phe552*) in the USH1C gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1 amino acid(s) of the USH1C protein. This variant is present in population databases (no rsID available, gnomAD 0.001%). This variant has not been reported in the literature in individuals affected with USH1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 554232). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.

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