ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.2975C>T (p.Thr992Met)

gnomAD frequency: 0.00009  dbSNP: rs750033888
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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 RCV004063170 SCV002751050 uncertain significance not specified 2022-09-05 criteria provided, single submitter clinical testing The p.T975M variant (also known as c.2924C>T), located in coding exon 16 of the PALLD gene, results from a C to T substitution at nucleotide position 2924. The threonine at codon 975 is replaced by methionine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003102884 SCV003459009 likely benign Pancreatic adenocarcinoma 2023-04-28 criteria provided, single submitter clinical testing

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