ClinVar Miner

Submissions for variant NM_173477.5(USH1G):c.635G>C (p.Gly212Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001054957 SCV001219319 uncertain significance not provided 2020-01-03 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 212 of the USH1G protein (p.Gly212Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine. This variant is present in population databases (rs200197601, ExAC 0.04%). This variant has not been reported in the literature in individuals with USH1G-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Illumina Clinical Services Laboratory,Illumina RCV001124408 SCV001283355 uncertain significance Usher syndrome, type 1G 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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