ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.2507T>A (p.Val836Asp)

dbSNP: rs1060502793
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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 RCV000472505 SCV000550769 uncertain significance Familial cancer of breast 2016-12-24 criteria provided, single submitter clinical testing In summary, this variant 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a PALB2-related disease. This sequence change replaces valine with aspartic acid at codon 836 of the PALB2 protein (p.Val836Asp). The valine residue is weakly conserved and there is a large physicochemical difference between valine and aspartic acid.
Baylor Genetics RCV000472505 SCV004202190 uncertain significance Familial cancer of breast 2023-06-28 criteria provided, single submitter clinical testing

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