ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.1965-12898C>A

gnomAD frequency: 0.00004  dbSNP: rs1025237623
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000868586 SCV001009933 likely benign Pancreatic adenocarcinoma 2023-09-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027730 SCV003737654 uncertain significance not specified 2021-09-10 criteria provided, single submitter clinical testing The c.133C>A (p.P45T) alteration is located in exon 2 (coding exon 1) of the PALLD gene. This alteration results from a C to A substitution at nucleotide position 133, causing the proline (P) at amino acid position 45 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004751764 SCV005349189 uncertain significance PALLD-related disorder 2024-06-21 no assertion criteria provided clinical testing The PALLD c.133C>A variant is predicted to result in the amino acid substitution p.Pro45Thr. This variant is referred to as c.1965-12898C>A (intronic) with an alternate transcript NM_016081. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.17% of alleles in individuals of Latino descent in gnomAD and has conflicting interpretations regarding its pathogenicity in ClinVar, ranging from uncertain to likely benign (https://www.ncbi.nlm.nih.gov/clinvar/variation/700415/). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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