ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.2086A>G (p.Thr696Ala)

dbSNP: rs1195275297
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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 RCV001014380 SCV001175078 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-22 criteria provided, single submitter clinical testing The p.T696A variant (also known as c.2086A>G), located in coding exon 5 of the PALB2 gene, results from an A to G substitution at nucleotide position 2086. The threonine at codon 696 is replaced by alanine, an amino acid with 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 RCV003473573 SCV004202152 uncertain significance Familial cancer of breast 2023-08-01 criteria provided, single submitter clinical testing

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