ClinVar Miner

Submissions for variant NM_000108.5(DLD):c.1344_1347del (p.Asp448fs)

dbSNP: rs1402761530
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001061776 SCV001226532 pathogenic Pyruvate dehydrogenase E3 deficiency 2024-01-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp448Glufs*16) in the DLD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DLD are known to be pathogenic (PMID: 8968745, 9934985). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with DLD-related conditions. ClinVar contains an entry for this variant (Variation ID: 856335). For these reasons, this variant has been classified as Pathogenic.

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