ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.815G>A (p.Arg272Gln)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004055502 SCV002681777 uncertain significance not specified 2022-09-04 criteria provided, single submitter clinical testing The p.R272Q variant (also known as c.815G>A), located in coding exon 1 of the PALLD gene, results from a G to A substitution at nucleotide position 815. The arginine at codon 272 is replaced by glutamine, an amino acid with highly 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.
Fulgent Genetics, Fulgent Genetics RCV005025809 SCV005657686 uncertain significance Pancreatic cancer, susceptibility to, 1 2024-03-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003933769 SCV004763049 likely benign PALLD-related disorder 2020-07-03 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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