ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.47G>T (p.Gly16Val)

dbSNP: rs755131800
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662117 SCV000784460 uncertain significance Frontotemporal dementia 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662118 SCV000784461 uncertain significance Pick disease 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662119 SCV000784462 uncertain significance Progressive supranuclear ophthalmoplegia 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662120 SCV000784463 uncertain significance Parkinson disease, late-onset 2018-03-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000662117 SCV001229674 uncertain significance Frontotemporal dementia 2019-02-11 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 16 of the MAPT protein (p.Gly16Val). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and valine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with MAPT-related conditions. ClinVar contains an entry for this variant (Variation ID: 548576). 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: "Possibly 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.

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