ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.2513G>A (p.Ser838Asn)

dbSNP: rs863224702
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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 RCV000199356 SCV000254725 uncertain significance Pancreatic adenocarcinoma 2015-02-07 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 334 of the PALLD protein (p.Ser334Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine. This variant has not been published in the literature and is not present in population databases. In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0").
Ambry Genetics RCV004658988 SCV005153948 likely benign not specified 2024-04-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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