ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.1828A>C (p.Thr610Pro)

dbSNP: rs1555460632
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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 RCV000568145 SCV000663355 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-13 criteria provided, single submitter clinical testing The p.T610P variant (also known as c.1828A>C), located in coding exon 5 of the PALB2 gene, results from an A to C substitution at nucleotide position 1828. The threonine at codon 610 is replaced by proline, an amino acid with highly 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.
Baylor Genetics RCV004569129 SCV005053921 uncertain significance Familial cancer of breast 2024-01-05 criteria provided, single submitter clinical testing

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