ClinVar Miner

Submissions for variant NM_003705.5(SLC25A12):c.551A>G (p.Asp184Gly)

dbSNP: rs1164660591
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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 RCV000795026 SCV000934464 uncertain significance not provided 2018-12-11 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. This sequence change replaces aspartic acid with glycine at codon 184 of the SLC25A12 protein (p.Asp184Gly). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SLC25A12-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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0").
Ambry Genetics RCV004027514 SCV004950269 uncertain significance Inborn genetic diseases 2023-12-27 criteria provided, single submitter clinical testing The c.551A>G (p.D184G) alteration is located in exon 6 (coding exon 6) of the SLC25A12 gene. This alteration results from a A to G substitution at nucleotide position 551, causing the aspartic acid (D) at amino acid position 184 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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