ClinVar Miner

Submissions for variant NM_001354483.2(CSGALNACT1):c.776C>G (p.Ala259Gly)

dbSNP: rs374398144
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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 RCV002029082 SCV002289088 uncertain significance not provided 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces alanine with glycine at codon 259 of the CSGALNACT1 protein (p.Ala259Gly). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and glycine. This variant is present in population databases (rs374398144, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with CSGALNACT1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Ambry Genetics RCV002642188 SCV003540927 uncertain significance Inborn genetic diseases 2022-02-11 criteria provided, single submitter clinical testing The c.776C>G (p.A259G) alteration is located in exon 5 (coding exon 2) of the CSGALNACT1 gene. This alteration results from a C to G substitution at nucleotide position 776, causing the alanine (A) at amino acid position 259 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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