ClinVar Miner

Submissions for variant NM_001491.3(GCNT2):c.722A>G (p.Tyr241Cys)

gnomAD frequency: 0.00004  dbSNP: rs200427106
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001320286 SCV001511066 uncertain significance Cataract 13 with adult I phenotype 2020-04-03 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. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with GCNT2-related conditions. This variant is present in population databases (rs200427106, ExAC 0.1%). This sequence change replaces tyrosine with cysteine at codon 241 of the GCNT2 protein (p.Tyr241Cys). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and cysteine.

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