ClinVar Miner

Submissions for variant NM_032520.5(GNPTG):c.538C>G (p.Leu180Val)

gnomAD frequency: 0.00001  dbSNP: rs776105074
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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 RCV001044265 SCV001208054 uncertain significance not provided 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 180 of the GNPTG protein (p.Leu180Val). This variant is present in population databases (rs776105074, gnomAD 0.02%). 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: 841944). 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.
Ambry Genetics RCV004973277 SCV005595513 uncertain significance Inborn genetic diseases 2024-09-10 criteria provided, single submitter clinical testing The c.538C>G (p.L180V) alteration is located in exon 8 (coding exon 8) of the GNPTG gene. This alteration results from a C to G substitution at nucleotide position 538, causing the leucine (L) at amino acid position 180 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001827271 SCV002093809 uncertain significance GNPTG-mucolipidosis 2021-06-25 no assertion criteria provided clinical testing

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