ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.963_977dup (p.Lys321_Val325dup)

dbSNP: rs2063233021
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001045143 SCV001208977 uncertain significance Pyruvate dehydrogenase E1-alpha deficiency 2022-09-18 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 842685). This variant has been observed in individual(s) with pyruvate dehydrogenase E1-alpha (PDHE1α) deficiency (PMID: 28918066). This variant is not present in population databases (gnomAD no frequency). This variant, c.963_977dup, results in the insertion of 5 amino acid(s) of the PDHA1 protein (p.Lys321_Val325dup), but otherwise preserves the integrity of the reading frame.
GeneDx RCV001546396 SCV001765905 uncertain significance not provided 2019-12-24 criteria provided, single submitter clinical testing In-frame insertion of 5 amino acids in a non-repeat region; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 28918066)

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