ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.760T>C (p.Cys254Arg)

dbSNP: rs750084638
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000795975 SCV000935458 uncertain significance not provided 2020-11-10 criteria provided, single submitter clinical testing This sequence change replaces cysteine with arginine at codon 254 of the GALNT12 protein (p.Cys254Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine. This variant is present in population databases (rs750084638, ExAC 0.006%). This variant has not been reported in the literature in individuals with GALNT12-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Ambry Genetics RCV004027546 SCV004875795 uncertain significance not specified 2023-12-28 criteria provided, single submitter clinical testing The c.760T>C (p.C254R) alteration is located in exon 4 (coding exon 4) of the GALNT12 gene. This alteration results from a T to C substitution at nucleotide position 760, causing the cysteine (C) at amino acid position 254 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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