ClinVar Miner

Submissions for variant NM_001151.4(SLC25A4):c.742G>A (p.Asp248Asn)

dbSNP: rs755597294
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852560 SCV000995260 uncertain significance Restrictive cardiomyopathy 2018-08-13 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196354 SCV001366955 uncertain significance Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 2019-10-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3.
Labcorp Genetics (formerly Invitae), Labcorp RCV002538866 SCV002944890 uncertain significance not provided 2022-07-15 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. 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: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 691710). This variant has not been reported in the literature in individuals affected with SLC25A4-related conditions. This variant is present in population databases (rs755597294, gnomAD 0.006%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 248 of the SLC25A4 protein (p.Asp248Asn).

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