ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.*155C>G

dbSNP: rs1560940853
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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 RCV000686406 SCV000813924 uncertain significance Pancreatic adenocarcinoma 2022-01-27 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 657 of the PALLD protein (p.Pro657Ala). This variant is not present in population databases (gnomAD no frequency). 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 C0"). ClinVar contains an entry for this variant (Variation ID: 566561). This variant has not been reported in the literature in individuals affected with PALLD-related conditions.
Ambry Genetics RCV004837774 SCV005463965 uncertain significance not specified 2024-11-15 criteria provided, single submitter clinical testing The c.1969C>G (p.P657A) alteration is located in exon 12 (coding exon 11) of the PALLD gene. This alteration results from a C to G substitution at nucleotide position 1969, causing the proline (P) at amino acid position 657 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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