ClinVar Miner

Submissions for variant NM_000925.4(PDHB):c.10G>A (p.Val4Met)

gnomAD frequency: 0.00010  dbSNP: rs201470762
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002487614 SCV002780587 uncertain significance Pyruvate dehydrogenase E1-beta deficiency 2022-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027328 SCV005003729 uncertain significance Inborn genetic diseases 2023-12-20 criteria provided, single submitter clinical testing The c.10G>A (p.V4M) alteration is located in exon 1 (coding exon 1) of the PDHB gene. This alteration results from a G to A substitution at nucleotide position 10, causing the valine (V) at amino acid position 4 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000781979 SCV000920434 uncertain significance Seizure 2017-09-01 no assertion criteria provided clinical testing

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