ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.1382A>G (p.Tyr461Cys)

gnomAD frequency: 0.00001  dbSNP: rs764920800
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004030316 SCV001171592 uncertain significance not specified 2024-04-28 criteria provided, single submitter clinical testing The p.Y461C variant (also known as c.1382A>G), located in coding exon 8 of the GALNT12 gene, results from an A to G substitution at nucleotide position 1382. The tyrosine at codon 461 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001319599 SCV001510354 uncertain significance not provided 2023-10-08 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 461 of the GALNT12 protein (p.Tyr461Cys). This variant is present in population databases (rs764920800, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with GALNT12-related conditions. ClinVar contains an entry for this variant (Variation ID: 819066). 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. 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.
Baylor Genetics RCV003467594 SCV004196143 uncertain significance Colorectal cancer, susceptibility to, 1 2023-10-06 criteria provided, single submitter clinical testing

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