ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.452T>G (p.Leu151Arg)

gnomAD frequency: 0.00001  dbSNP: rs200015550
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001760321 SCV001989509 uncertain significance not provided 2020-01-30 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001871582 SCV002249499 uncertain significance Mucolipidosis type II; Pseudo-Hurler polydystrophy 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces leucine with arginine at codon 151 of the GNPTAB protein (p.Leu151Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine. This variant is present in population databases (rs200015550, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with GNPTAB-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"). 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.
Natera, Inc. RCV001279856 SCV001466989 uncertain significance Mucolipidosis type II 2020-04-17 no assertion criteria provided clinical testing

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