ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.337A>G (p.Lys113Glu)

gnomAD frequency: 0.00006  dbSNP: rs140656599
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664677 SCV000788678 uncertain significance Mucolipidosis type II; Pseudo-Hurler polydystrophy 2017-05-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000664677 SCV000896233 uncertain significance Mucolipidosis type II; Pseudo-Hurler polydystrophy 2021-09-10 criteria provided, single submitter clinical testing
Invitae RCV000664677 SCV001233059 uncertain significance Mucolipidosis type II; Pseudo-Hurler polydystrophy 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 113 of the GNPTAB protein (p.Lys113Glu). This variant is present in population databases (rs140656599, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with GNPTAB-related conditions. ClinVar contains an entry for this variant (Variation ID: 550053). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GNPTAB 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000675294 SCV000800957 uncertain significance not provided 2017-05-17 no assertion criteria provided clinical testing
Natera, Inc. RCV001835903 SCV002088611 uncertain significance Mucolipidosis type II 2020-02-12 no assertion criteria provided clinical testing

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