ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.2092G>T (p.Gly698Cys)

gnomAD frequency: 0.00004  dbSNP: rs143417961
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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 RCV000199930 SCV000254734 uncertain significance Pancreatic adenocarcinoma 2022-07-12 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: 216537). This variant has not been reported in the literature in individuals affected with PALLD-related conditions. This variant is present in population databases (rs143417961, gnomAD 0.02%). This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 211 of the PALLD protein (p.Gly211Cys).

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