ClinVar Miner

Submissions for variant NM_002519.3(NPAT):c.3137C>T (p.Pro1046Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004048436 SCV002608943 uncertain significance not specified 2022-09-04 criteria provided, single submitter clinical testing The p.P1046L variant (also known as c.3137C>T), located in coding exon 17 of the NPAT gene, results from a C to T substitution at nucleotide position 3137. The proline at codon 1046 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003099226 SCV003251071 benign not provided 2025-01-15 criteria provided, single submitter clinical testing

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