ClinVar Miner

Submissions for variant NM_018344.6(SLC29A3):c.431C>G (p.Ala144Gly)

gnomAD frequency: 0.00001  dbSNP: rs751289697
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001370117 SCV001566582 uncertain significance H syndrome 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces alanine with glycine at codon 144 of the SLC29A3 protein (p.Ala144Gly). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and glycine. This variant is present in population databases (rs751289697, ExAC 0.001%). This variant has not been reported in the literature in individuals affected with SLC29A3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 RCV002550098 SCV003565554 uncertain significance Inborn genetic diseases 2021-07-14 criteria provided, single submitter clinical testing The c.431C>G (p.A144G) alteration is located in exon 4 (coding exon 4) of the SLC29A3 gene. This alteration results from a C to G substitution at nucleotide position 431, causing the alanine (A) at amino acid position 144 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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