ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.4G>A (p.Asp2Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002343054 SCV002642395 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-22 criteria provided, single submitter clinical testing The p.D2N variant (also known as c.4G>A), located in coding exon 1 of the PALB2 gene, results from a G to A substitution at nucleotide position 4. The aspartic acid at codon 2 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is poorly 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.
Baylor Genetics RCV004572294 SCV005055032 uncertain significance Familial cancer of breast 2023-11-29 criteria provided, single submitter clinical testing

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