ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.1965-12795C>T

gnomAD frequency: 0.00004  dbSNP: rs587780759
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000123170 SCV000166475 uncertain significance Pancreatic adenocarcinoma 2020-11-25 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with PALLD-related conditions. ClinVar contains an entry for this variant (Variation ID: 136004). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces alanine with valine at codon 79 of the PALLD protein (p.Ala79Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine.

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