ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.1965-12817C>T

gnomAD frequency: 0.00007  dbSNP: rs1211489449
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000870169 SCV001011650 likely benign Pancreatic adenocarcinoma 2023-10-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027771 SCV003944223 uncertain significance not specified 2023-03-22 criteria provided, single submitter clinical testing The c.214C>T (p.P72S) alteration is located in exon 2 (coding exon 1) of the PALLD gene. This alteration results from a C to T substitution at nucleotide position 214, causing the proline (P) at amino acid position 72 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003975420 SCV004790162 likely benign PALLD-related disorder 2023-07-19 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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