ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.8989G>A (p.Val2997Met)

gnomAD frequency: 0.00001  dbSNP: rs781469305
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592641 SCV000703571 uncertain significance not provided 2016-11-22 criteria provided, single submitter clinical testing
Invitae RCV000592641 SCV002206570 uncertain significance not provided 2022-02-05 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 2997 of the PCNT protein (p.Val2997Met). This variant is present in population databases (rs781469305, gnomAD 0.009%). 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: 498522). 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 methionine 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.

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