ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.361G>A (p.Gly121Ser)

gnomAD frequency: 0.00006  dbSNP: rs377510653
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001243721 SCV001416897 uncertain significance not provided 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 121 of the USH1C protein (p.Gly121Ser). This variant is present in population databases (rs377510653, gnomAD 0.01%). 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: 968559). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C55". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002504348 SCV002815497 uncertain significance Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A; Usher syndrome type 1 2021-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004034761 SCV004975766 uncertain significance Inborn genetic diseases 2022-08-02 criteria provided, single submitter clinical testing The c.361G>A (p.G121S) alteration is located in exon 4 (coding exon 4) of the USH1C gene. This alteration results from a G to A substitution at nucleotide position 361, causing the glycine (G) at amino acid position 121 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV001243721 SCV005379996 uncertain significance not provided 2023-12-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001835181 SCV002080224 uncertain significance Usher syndrome type 1C 2020-06-17 no assertion criteria provided clinical testing

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