ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.1135A>G (p.Arg379Gly)

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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 RCV004049377 SCV002611115 uncertain significance not specified 2022-05-30 criteria provided, single submitter clinical testing The p.R379G variant (also known as c.1135A>G), located in coding exon 3 of the PALLD gene, results from an A to G substitution at nucleotide position 1135. The arginine at codon 379 is replaced by glycine, an amino acid with dissimilar 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 RCV005025793 SCV005657691 uncertain significance Pancreatic cancer, susceptibility to, 1 2024-03-25 criteria provided, single submitter clinical testing

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