ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.1124G>A (p.Arg375Gln)

gnomAD frequency: 0.00003  dbSNP: rs745438711
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817821 SCV000958404 uncertain significance Mucolipidosis type II; Pseudo-Hurler polydystrophy 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 375 of the GNPTAB protein (p.Arg375Gln). This variant is present in population databases (rs745438711, gnomAD 0.004%). 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: 660594). 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 with a negative predictive value of 80%. 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.
Fulgent Genetics, Fulgent Genetics RCV000817821 SCV002799665 uncertain significance Mucolipidosis type II; Pseudo-Hurler polydystrophy 2022-03-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825646 SCV002088596 uncertain significance Mucolipidosis type II 2020-02-21 no assertion criteria provided clinical testing

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