ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.3089T>C (p.Ile1030Thr)

gnomAD frequency: 0.00002  dbSNP: rs774078101
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001986355 SCV002281755 uncertain significance Pancreatic adenocarcinoma 2024-01-31 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 526 of the PALLD protein (p.Ile526Thr). This variant is present in population databases (rs774078101, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with PALLD-related conditions. ClinVar contains an entry for this variant (Variation ID: 1491207). 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 RCV004827865 SCV005463904 uncertain significance not specified 2024-11-25 criteria provided, single submitter clinical testing The p.I526T variant (also known as c.1577T>C), located in coding exon 9 of the PALLD gene, results from a T to C substitution at nucleotide position 1577. The isoleucine at codon 526 is replaced by threonine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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