ClinVar Miner

Submissions for variant NM_000484.4(APP):c.1958G>A (p.Arg653Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV005368265 SCV005921320 uncertain significance Cerebral amyloid angiopathy, APP-related 2025-04-10 criteria provided, single submitter clinical testing A heterozygous missense variant in exon 15 of the APP gene that results in an amino acid substitution of Glutamine for Arginine at codon 653 was detected. The observed variant c.1958G>A (p.Arg653Gln) has a MAF of 0.0004% in the gnomAD databases. The in-silico prediction of the variant are possibly damaging by MutationTaster. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.

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