ClinVar Miner

Submissions for variant NM_032520.5(GNPTG):c.295A>G (p.Asn99Asp)

gnomAD frequency: 0.00009  dbSNP: rs143383133
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001212319 SCV001383899 uncertain significance not provided 2022-08-16 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 99 of the GNPTG protein (p.Asn99Asp). This variant is present in population databases (rs143383133, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with GNPTG-related conditions. ClinVar contains an entry for this variant (Variation ID: 942344). 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.
Ambry Genetics RCV004033852 SCV004878653 uncertain significance Inborn genetic diseases 2023-12-21 criteria provided, single submitter clinical testing The c.295A>G (p.N99D) alteration is located in exon 5 (coding exon 5) of the GNPTG gene. This alteration results from a A to G substitution at nucleotide position 295, causing the asparagine (N) at amino acid position 99 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001833860 SCV002093791 uncertain significance GNPTG-mucolipidosis 2020-09-22 no assertion criteria provided clinical testing

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