ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.2255A>T (p.Tyr752Phe)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004061744 SCV002729547 uncertain significance not specified 2023-09-05 criteria provided, single submitter clinical testing The p.Y735F variant (also known as c.2204A>T), located in coding exon 12 of the PALLD gene, results from an A to T substitution at nucleotide position 2204. The tyrosine at codon 735 is replaced by phenylalanine, 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.
Invitae RCV003101126 SCV003523762 uncertain significance Pancreatic adenocarcinoma 2022-02-19 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 C15"). 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 tyrosine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 248 of the PALLD protein (p.Tyr248Phe).

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