ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.1965-12837C>G

gnomAD frequency: 0.00001  dbSNP: rs1581871066
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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 RCV000819502 SCV000960166 uncertain significance Pancreatic adenocarcinoma 2022-08-09 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 661972). This variant has not been reported in the literature in individuals affected with PALLD-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 65 of the PALLD protein (p.Pro65Arg).
Ambry Genetics RCV004029007 SCV004999928 uncertain significance not specified 2023-10-27 criteria provided, single submitter clinical testing The c.194C>G (p.P65R) alteration is located in exon 2 (coding exon 1) of the PALLD gene. This alteration results from a C to G substitution at nucleotide position 194, causing the proline (P) at amino acid position 65 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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