ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.2066G>A (p.Arg689His)

gnomAD frequency: 0.00002  dbSNP: rs758090588
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001212675 SCV001384267 uncertain significance Pancreatic adenocarcinoma 2022-09-07 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"). ClinVar contains an entry for this variant (Variation ID: 942652). This variant has not been reported in the literature in individuals affected with PALLD-related conditions. This variant is present in population databases (rs758090588, gnomAD 0.004%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 202 of the PALLD protein (p.Arg202His).
Ambry Genetics RCV004033862 SCV002725638 uncertain significance not specified 2024-02-22 criteria provided, single submitter clinical testing The p.R689H variant (also known as c.2066G>A), located in coding exon 10 of the PALLD gene, results from a G to A substitution at nucleotide position 2066. The arginine at codon 689 is replaced by histidine, 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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