ClinVar Miner

Submissions for variant NM_033109.5(PNPT1):c.1771A>C (p.Lys591Gln)

gnomAD frequency: 0.00008  dbSNP: rs542676905
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000512732 SCV000608938 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Invitae RCV000512732 SCV001655251 likely benign not provided 2024-01-17 criteria provided, single submitter clinical testing
GeneDx RCV000512732 SCV002770013 uncertain significance not provided 2022-12-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004023465 SCV005008576 uncertain significance Inborn genetic diseases 2021-10-06 criteria provided, single submitter clinical testing The c.1771A>C (p.K591Q) alteration is located in exon 22 (coding exon 22) of the PNPT1 gene. This alteration results from a A to C substitution at nucleotide position 1771, causing the lysine (K) at amino acid position 591 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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