ClinVar Miner

Submissions for variant NM_033109.5(PNPT1):c.516C>T (p.Gly172=)

gnomAD frequency: 0.00009  dbSNP: rs372627112
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000609864 SCV000732620 likely benign not specified 2017-06-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001860354 SCV002155094 uncertain significance not provided 2022-05-29 criteria provided, single submitter clinical testing This sequence change affects codon 172 of the PNPT1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PNPT1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs372627112, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PNPT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 518028). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
PreventionGenetics, part of Exact Sciences RCV004544803 SCV004777981 likely benign PNPT1-related disorder 2019-08-20 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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