ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.569A>G (p.Asn190Ser)

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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 RCV004053716 SCV002647478 uncertain significance not specified 2022-06-15 criteria provided, single submitter clinical testing The p.N190S variant (also known as c.569A>G), located in coding exon 1 of the PALLD gene, results from an A to G substitution at nucleotide position 569. The asparagine at codon 190 is replaced by serine, an amino acid with highly 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.
Fulgent Genetics, Fulgent Genetics RCV005025803 SCV005657684 uncertain significance Pancreatic cancer, susceptibility to, 1 2024-01-23 criteria provided, single submitter clinical testing

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