ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.2701C>T (p.His901Tyr)

dbSNP: rs2151408223
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001976303 SCV002263319 uncertain significance Pancreatic adenocarcinoma 2020-11-16 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with tyrosine at codon 397 of the PALLD protein (p.His397Tyr). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant has not been reported in the literature in individuals with PALLD-related conditions. 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 C35"). 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.

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