ClinVar Miner

Submissions for variant NM_000484.4(APP):c.2113C>G (p.Leu705Val)

dbSNP: rs63750921
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Total submissions: 3
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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 RCV003987327 SCV004803737 likely pathogenic Cerebral amyloid angiopathy, APP-related 2024-01-24 criteria provided, single submitter clinical testing Variant summary: APP c.2113C>G (p.Leu705Val) results in a conservative amino acid change located in the Amyloidogenic glycoprotein, amyloid-beta peptide (IPR013803) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251340 control chromosomes. c.2113C>G has been reported in the literature in individuals affected with Cerebral Amyloid Angiopathy, APP-Related (Moro_2012, Obici_2005) and shown to segregate with disease. These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 23143229, 16178030). ClinVar contains an entry for this variant (Variation ID: 18103). Based on the evidence outlined above, the variant was classified as likely pathogenic.
OMIM RCV000019731 SCV000040029 pathogenic CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT 2009-07-01 no assertion criteria provided literature only
VIB Department of Molecular Genetics, University of Antwerp RCV000084565 SCV000116701 not provided not provided no assertion provided not provided

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