ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.845G>A (p.Arg282Lys)

gnomAD frequency: 0.00001  dbSNP: rs374578939
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002000671 SCV002274409 uncertain significance not provided 2022-10-11 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GALNT12 protein function. ClinVar contains an entry for this variant (Variation ID: 1481954). This variant has not been reported in the literature in individuals affected with GALNT12-related conditions. This variant is present in population databases (rs374578939, gnomAD 0.0009%). This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 282 of the GALNT12 protein (p.Arg282Lys).
Ambry Genetics RCV004042471 SCV002680606 uncertain significance not specified 2021-08-14 criteria provided, single submitter clinical testing The p.R282K variant (also known as c.845G>A), located in coding exon 4 of the GALNT12 gene, results from a G to A substitution at nucleotide position 845. The arginine at codon 282 is replaced by lysine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004571888 SCV005058818 uncertain significance Colorectal cancer, susceptibility to, 1 2024-02-08 criteria provided, single submitter clinical testing

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