ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.1115C>T (p.Ala372Val)

gnomAD frequency: 0.00010  dbSNP: rs377402921
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493800 SCV000582628 uncertain significance not provided 2017-05-12 criteria provided, single submitter clinical testing The A297V variant in the MAPT gene has been published previously in one patient with frontotemporal dementia, however the authors suggest the variant may be benign, as it exists in exon 4A, which is not expressed in adult human cerebral cortex and there are other variants in exon 4A found at significant frequencies in publicly available databases (Jin et al., 2012). The A297V variant is observed in 3/66288 (0.0045%) alleles from individuals of non-Finnish, European background, in the ExAC dataset (Lek et al., 2016). The A297V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, we interpret A297V as a variant of uncertain significance.
Fulgent Genetics,Fulgent Genetics RCV000764133 SCV000895107 uncertain significance Frontotemporal dementia; Parkinson disease, late-onset; Progressive supranuclear palsy-parkinsonism syndrome; Pick disease; Progressive supranuclear ophthalmoplegia 2018-10-31 criteria provided, single submitter clinical testing

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