ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.3413C>G (p.Ala1138Gly)

dbSNP: rs1966403381
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001339173 SCV001532894 uncertain significance Familial cancer of breast 2023-10-25 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 1138 of the PALB2 protein (p.Ala1138Gly). 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: 1036197). 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 disruptive. 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 RCV003365339 SCV004057635 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-28 criteria provided, single submitter clinical testing The p.A1138G variant (also known as c.3413C>G), located in coding exon 13 of the PALB2 gene, results from a C to G substitution at nucleotide position 3413. The alanine at codon 1138 is replaced by glycine, an amino acid with similar 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.
Baylor Genetics RCV001339173 SCV005053859 uncertain significance Familial cancer of breast 2024-03-22 criteria provided, single submitter clinical testing
GeneDx RCV004762102 SCV005373257 uncertain significance not provided 2023-07-31 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: 19609323, 24485656, 20871615)

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