ClinVar Miner

Submissions for variant NM_000108.5(DLD):c.1343A>G (p.Asp448Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003146101 SCV003834692 uncertain significance Pyruvate dehydrogenase E3 deficiency 2022-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004246134 SCV004855985 uncertain significance Inborn genetic diseases 2023-10-05 criteria provided, single submitter clinical testing The c.1343A>G (p.D448G) alteration is located in exon 12 (coding exon 12) of the DLD gene. This alteration results from a A to G substitution at nucleotide position 1343, causing the aspartic acid (D) at amino acid position 448 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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