ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.2597G>A (p.Gly866Asp)

gnomAD frequency: 0.00001  dbSNP: rs62625279
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166501 SCV000217300 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-22 criteria provided, single submitter clinical testing The p.G866D variant (also known as c.2597G>A), located in coding exon 7 of the PALB2 gene, results from a G to A substitution at nucleotide position 2597. The glycine at codon 866 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000635797 SCV000757220 uncertain significance Familial cancer of breast 2023-08-07 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. 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. ClinVar contains an entry for this variant (Variation ID: 186848). This variant has not been reported in the literature in individuals affected with PALB2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 866 of the PALB2 protein (p.Gly866Asp).
Color Diagnostics, LLC DBA Color Health RCV000166501 SCV001339504 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-20 criteria provided, single submitter clinical testing
Baylor Genetics RCV000635797 SCV004202646 uncertain significance Familial cancer of breast 2023-05-05 criteria provided, single submitter clinical testing

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