ClinVar Miner

Submissions for variant NM_000298.6(PKLR):c.754G>A (p.Val252Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center RCV003479548 SCV004218536 likely pathogenic Pyruvate kinase deficiency of red cells 2024-01-01 criteria provided, single submitter clinical testing PP3-S, PM2
Ambry Genetics RCV004364824 SCV005006258 uncertain significance Inborn genetic diseases 2024-01-16 criteria provided, single submitter clinical testing The c.754G>A (p.V252M) alteration is located in exon 6 (coding exon 6) of the PKLR gene. This alteration results from a G to A substitution at nucleotide position 754, causing the valine (V) at amino acid position 252 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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