ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.2078C>G (p.Pro693Arg)

dbSNP: rs63751273
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003630977 SCV004459529 uncertain significance Frontotemporal dementia 2023-04-16 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. This variant disrupts the p.Pro301 amino acid residue in MAPT. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9641683, 26220942, 26269332, 27439681). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MAPT protein function. This variant has not been reported in the literature in individuals affected with MAPT-related conditions. This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 301 of the MAPT protein (p.Pro301Arg).

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