ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1183C>T (p.His395Tyr)

gnomAD frequency: 0.00002  dbSNP: rs769984840
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002499488 SCV002776796 uncertain significance Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A; Usher syndrome type 1 2021-07-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002537893 SCV003290374 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 395 of the USH1C protein (p.His395Tyr). The histidine residue is moderately conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is present in population databases (rs769984840, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with USH1C-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Natera, Inc. RCV001280395 SCV001467573 uncertain significance Usher syndrome type 1C 2020-04-11 no assertion criteria provided clinical testing

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