ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.2063T>G (p.Leu688Arg)

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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 RCV004243142 SCV003857882 uncertain significance not specified 2022-12-19 criteria provided, single submitter clinical testing The p.L688R variant (also known as c.2063T>G), located in coding exon 10 of the PALLD gene, results from a T to G substitution at nucleotide position 2063. The leucine at codon 688 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005036686 SCV005657703 uncertain significance Pancreatic cancer, susceptibility to, 1 2024-05-15 criteria provided, single submitter clinical testing

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