ClinVar Miner

Submissions for variant NM_033109.5(PNPT1):c.40C>T (p.Arg14Trp)

gnomAD frequency: 0.00010  dbSNP: rs199712282
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001840873 SCV002099641 uncertain significance not provided 2022-02-28 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
Invitae RCV001840873 SCV002474026 likely benign not provided 2023-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004041051 SCV005008583 uncertain significance Inborn genetic diseases 2024-01-19 criteria provided, single submitter clinical testing The c.40C>T (p.R14W) alteration is located in exon 1 (coding exon 1) of the PNPT1 gene. This alteration results from a C to T substitution at nucleotide position 40, causing the arginine (R) at amino acid position 14 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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