ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.3103A>T (p.Ile1035Phe)

dbSNP: rs863224783
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000205673 SCV000259961 uncertain significance Familial cancer of breast 2022-08-31 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 219857). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 phenylalanine, which is neutral and non-polar, at codon 1035 of the PALB2 protein (p.Ile1035Phe). 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 RCV000565112 SCV000666933 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-03 criteria provided, single submitter clinical testing The p.I1035F variant (also known as c.3103A>T), located in coding exon 10 of the PALB2 gene, results from an A to T substitution at nucleotide position 3103. The isoleucine at codon 1035 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is 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.
Color Diagnostics, LLC DBA Color Health RCV000565112 SCV000686007 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-28 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000565112 SCV002530751 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-17 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002485342 SCV002792999 uncertain significance Familial cancer of breast; Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3 2021-08-10 criteria provided, single submitter clinical testing
GeneDx RCV003153483 SCV003842425 uncertain significance not provided 2023-03-13 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; Observed in an individual with colorectal cancer (DeRycke et al., 2017); This variant is associated with the following publications: (PMID: 35762214, 19609323, 20871615, 24485656, 33471991, 28944238, 36387127)
Baylor Genetics RCV000205673 SCV004202101 uncertain significance Familial cancer of breast 2023-09-03 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001030379 SCV001193345 uncertain significance Carcinoma of colon 2017-01-31 no assertion criteria provided curation Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitter to LOVD: Melissa DeRycke.

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