ClinVar Miner

Submissions for variant NM_032520.5(GNPTG):c.179G>A (p.Gly60Glu)

dbSNP: rs2141861695
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002042837 SCV002294733 uncertain significance not provided 2021-06-24 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 60 of the GNPTG protein (p.Gly60Glu). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with GNPTG-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University RCV003313259 SCV004012879 uncertain significance GNPTG-mucolipidosis no assertion criteria provided research

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