ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.5074G>A (p.Val1692Ile)

dbSNP: rs113342730
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000387752 SCV000336743 likely benign not specified 2015-10-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000387752 SCV000596288 uncertain significance not specified 2016-08-08 criteria provided, single submitter clinical testing
Invitae RCV001855138 SCV002209739 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1692 of the PCNT protein (p.Val1692Ile). This variant is present in population databases (rs113342730, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with PCNT-related conditions. ClinVar contains an entry for this variant (Variation ID: 284216). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV002518915 SCV003706475 likely benign Inborn genetic diseases 2021-08-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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