ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.2495A>G (p.His832Arg)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002295138 SCV002594928 uncertain significance Familial cancer of breast 2022-10-23 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 832 of the PALB2 protein (p.His832Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PALB2-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PALB2 protein function. 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.
Ambry Genetics RCV004047707 SCV005028916 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-24 criteria provided, single submitter clinical testing The p.H832R variant (also known as c.2495A>G), located in coding exon 5 of the PALB2 gene, results from an A to G substitution at nucleotide position 2495. The histidine at codon 832 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005017198 SCV005646482 uncertain significance Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3; Breast-ovarian cancer, familial, susceptibility to, 5 2024-02-18 criteria provided, single submitter clinical testing

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