ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.1266C>G (p.His422Gln)

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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 RCV004056593 SCV002687817 uncertain significance not specified 2024-11-17 criteria provided, single submitter clinical testing The p.H422Q variant (also known as c.1266C>G), located in coding exon 5 of the PALLD gene, results from a C to G substitution at nucleotide position 1266. The histidine at codon 422 is replaced by glutamine, 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 RCV005025810 SCV005657694 uncertain significance Pancreatic cancer, susceptibility to, 1 2024-02-28 criteria provided, single submitter clinical testing

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