ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.569C>T (p.Ser190Leu)

dbSNP: rs200319849
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671159 SCV000796109 uncertain significance Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A 2017-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000122525 SCV001404796 uncertain significance not provided 2022-03-19 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 190 of the USH1C protein (p.Ser190Leu). This variant is present in population databases (rs200319849, gnomAD 0.0009%). This missense change has been observed in individual(s) with Usher syndrome (PMID: 21203349). ClinVar contains an entry for this variant (Variation ID: 91968). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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.
Richard Lifton Laboratory, Yale University School of Medicine RCV000122525 SCV000155033 unknown not provided no assertion criteria provided not provided Converted during submission to Uncertain significance.
Natera, Inc. RCV001831813 SCV002077590 uncertain significance Usher syndrome type 1C 2021-03-25 no assertion criteria provided clinical testing

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