ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.2764A>G (p.Ile922Val)

dbSNP: rs1555459736
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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 RCV000567694 SCV000663401 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-25 criteria provided, single submitter clinical testing The p.I922V variant (also known as c.2764A>G), located in coding exon 8 of the PALB2 gene, results from an A to G substitution at nucleotide position 2764. The isoleucine at codon 922 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly 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.
Invitae RCV000799150 SCV000938801 uncertain significance Familial cancer of breast 2022-07-27 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 480281). This variant has not been reported in the literature in individuals affected with PALB2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 922 of the PALB2 protein (p.Ile922Val). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site.

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