ClinVar Miner

Submissions for variant NM_014918.5(CHSY1):c.787G>T (p.Ala263Ser)

gnomAD frequency: 0.00011  dbSNP: rs752265345
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001234113 SCV001406741 uncertain significance Temtamy preaxial brachydactyly syndrome 2021-03-31 criteria provided, single submitter clinical testing 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: "Possibly Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with CHSY1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with serine at codon 263 of the CHSY1 protein (p.Ala263Ser). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and serine. 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.

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