ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.1965-12840C>G

gnomAD frequency: 0.00020  dbSNP: rs587780757
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000123167 SCV000166472 likely benign Pancreatic adenocarcinoma 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004019707 SCV003745374 uncertain significance not specified 2022-10-03 criteria provided, single submitter clinical testing The c.191C>G (p.A64G) alteration is located in exon 2 (coding exon 1) of the PALLD gene. This alteration results from a C to G substitution at nucleotide position 191, causing the alanine (A) at amino acid position 64 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003925221 SCV004743867 likely benign PALLD-related disorder 2020-10-06 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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