ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.1289G>A (p.Arg430Gln)

gnomAD frequency: 0.00002  dbSNP: rs782627956
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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 RCV001228444 SCV001400844 uncertain significance Pyruvate dehydrogenase E2 deficiency 2022-08-20 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 430 of the DLAT protein (p.Arg430Gln). This variant is present in population databases (rs782627956, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with DLAT-related conditions. ClinVar contains an entry for this variant (Variation ID: 955752). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV004032634 SCV004855936 uncertain significance Inborn genetic diseases 2024-03-04 criteria provided, single submitter clinical testing The c.1289G>A (p.R430Q) alteration is located in exon 9 (coding exon 9) of the DLAT gene. This alteration results from a G to A substitution at nucleotide position 1289, causing the arginine (R) at amino acid position 430 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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