ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.1965-12882T>A

dbSNP: rs1752027354
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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 RCV001372904 SCV001569598 uncertain significance Pancreatic adenocarcinoma 2023-12-09 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with histidine, which is basic and polar, at codon 50 of the PALLD protein (p.Leu50His). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PALLD-related conditions. ClinVar contains an entry for this variant (Variation ID: 1063099). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Ambry Genetics RCV004651631 SCV005149191 uncertain significance not specified 2024-06-10 criteria provided, single submitter clinical testing The c.149T>A (p.L50H) alteration is located in exon 2 (coding exon 1) of the PALLD gene. This alteration results from a T to A substitution at nucleotide position 149, causing the leucine (L) at amino acid position 50 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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