ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.2072A>G (p.Lys691Arg)

gnomAD frequency: 0.00004  dbSNP: rs144380526
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001351444 SCV001545915 uncertain significance Pancreatic adenocarcinoma 2020-07-19 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). This variant has not been reported in the literature in individuals with PALLD-related conditions. This variant is present in population databases (rs144380526, ExAC 0.02%). This sequence change replaces lysine with arginine at codon 204 of the PALLD protein (p.Lys204Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine.
Ambry Genetics RCV004036655 SCV003855717 uncertain significance not specified 2022-11-15 criteria provided, single submitter clinical testing The p.K691R variant (also known as c.2072A>G), located in coding exon 10 of the PALLD gene, results from an A to G substitution at nucleotide position 2072. The lysine at codon 691 is replaced by arginine, an amino acid with highly 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.

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