ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.1974G>A (p.Leu658=)

dbSNP: rs373081497
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000290067 SCV000403487 likely benign MAPT-Related Spectrum Disorders 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000970516 SCV001118095 benign Frontotemporal dementia 2023-10-13 criteria provided, single submitter clinical testing

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