ClinVar Miner

Submissions for variant NM_000298.6(PKLR):c.1318G>T (p.Glu440Ter)

gnomAD frequency: 0.00001  dbSNP: rs771145576
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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 RCV001851554 SCV002211341 pathogenic not provided 2021-06-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu440*) in the PKLR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PKLR are known to be pathogenic (PMID: 15953013, 26832193). For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with pyruvate kinase deficiency (PMID: 15491302). ClinVar contains an entry for this variant (Variation ID: 1516). This variant is present in population databases (rs771145576, ExAC 0.001%).
OMIM RCV000001580 SCV000021736 pathogenic Pyruvate kinase deficiency of red cells 2004-11-01 no assertion criteria provided literature only

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