ClinVar Miner

Submissions for variant NM_032520.5(GNPTG):c.19C>T (p.Arg7Trp)

gnomAD frequency: 0.00001  dbSNP: rs532236241
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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 RCV001339119 SCV001532840 uncertain significance not provided 2024-10-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 7 of the GNPTG protein (p.Arg7Trp). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 1036156). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. RCV001830408 SCV002093765 uncertain significance GNPTG-mucolipidosis 2020-08-08 no assertion criteria provided clinical testing

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