ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.140C>A (p.Ala47Asp)

dbSNP: rs1304764723
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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 RCV001296349 SCV001485310 uncertain significance not provided 2017-07-12 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. This sequence change replaces alanine with aspartic acid at codon 47 of the GALNT12 protein (p.Ala47Asp). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and aspartic acid. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with GALNT12-related disease. 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain.
Ambry Genetics RCV004036029 SCV002697841 uncertain significance not specified 2024-09-30 criteria provided, single submitter clinical testing The p.A47D variant (also known as c.140C>A), located in coding exon 1 of the GALNT12 gene, results from a C to A substitution at nucleotide position 140. The alanine at codon 47 is replaced by aspartic acid, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005040137 SCV005677626 uncertain significance Colorectal cancer, susceptibility to, 1 2024-02-16 criteria provided, single submitter clinical testing

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