ClinVar Miner

Submissions for variant NM_032520.5(GNPTG):c.113T>C (p.Val38Ala)

gnomAD frequency: 0.00009  dbSNP: rs372379104
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001068525 SCV001233641 uncertain significance not provided 2024-10-26 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 38 of the GNPTG protein (p.Val38Ala). This variant is present in population databases (rs372379104, gnomAD 0.03%). 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: 861906). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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. RCV001827451 SCV002093775 uncertain significance GNPTG-mucolipidosis 2020-09-24 no assertion criteria provided clinical testing

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