ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.1570A>G (p.Asn524Asp)

gnomAD frequency: 0.00001  dbSNP: rs749452608
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000632920 SCV000754125 uncertain significance Mucolipidosis type II; Pseudo-Hurler polydystrophy 2022-06-30 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 524 of the GNPTAB protein (p.Asn524Asp). This variant is present in population databases (rs749452608, 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: 527895). 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: "Tolerated"; 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. RCV001835011 SCV002088589 uncertain significance Mucolipidosis type II 2019-10-28 no assertion criteria provided clinical testing

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