ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.164A>T (p.Gln55Leu)

dbSNP: rs1555462056
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559691 SCV000633295 uncertain significance Familial cancer of breast 2017-02-20 criteria provided, single submitter clinical testing 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. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. This sequence change replaces glutamine with leucine at codon 55 of the PALB2 protein (p.Gln55Leu). The glutamine residue is weakly conserved and there is a moderate physicochemical difference between glutamine and leucine.

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