ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.95A>G (p.Asn32Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003324115 SCV004028875 uncertain significance not specified 2023-07-03 criteria provided, single submitter clinical testing Variant summary: PSEN1 c.95A>G (p.Asn32Ser) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00019 in 251404 control chromosomes. To our knowledge, no occurrence of c.95A>G in individuals affected with Alzheimer Disease, Type 3 and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV003777345 SCV004604294 likely benign Alzheimer disease 3; Frontotemporal dementia; Pick disease; Acne inversa, familial, 3 2023-02-22 criteria provided, single submitter clinical testing

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