ClinVar Miner

Submissions for variant NM_001151.4(SLC25A4):c.515G>T (p.Gly172Val)

dbSNP: rs1560841935
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000681637 SCV000809083 uncertain significance Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive 2018-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868308 SCV002276995 uncertain significance not provided 2021-12-02 criteria provided, single submitter clinical testing 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: "Probably Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 562200). This variant has not been reported in the literature in individuals affected with SLC25A4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 172 of the SLC25A4 protein (p.Gly172Val). 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.

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