ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.3308T>G (p.Val1103Gly)

dbSNP: rs1966506776
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001776722 SCV002013504 uncertain significance not provided 2023-06-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 20871615, 19609323, 24485656)
Invitae RCV001885134 SCV002268584 uncertain significance Familial cancer of breast 2023-11-17 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 1103 of the PALB2 protein (p.Val1103Gly). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PALB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1320743). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Ambry Genetics RCV002324197 SCV002606541 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-11 criteria provided, single submitter clinical testing The p.V1103G variant (also known as c.3308T>G), located in coding exon 12 of the PALB2 gene, results from a T to G substitution at nucleotide position 3308. The valine at codon 1103 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is conserved. 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.

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