ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.1351T>A (p.Leu451Ile)

dbSNP: rs772691867
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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 RCV001011081 SCV001171362 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-18 criteria provided, single submitter clinical testing The p.L451I variant (also known as c.1351T>A), located in coding exon 4 of the PALB2 gene, results from a T to A substitution at nucleotide position 1351. The leucine at codon 451 is replaced by isoleucine, 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 RCV003473565 SCV004202000 uncertain significance Familial cancer of breast 2023-10-26 criteria provided, single submitter clinical testing

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