ClinVar Miner

Submissions for variant NM_001384732.1(CPLANE1):c.4034A>G (p.Gln1345Arg)

gnomAD frequency: 0.00001  dbSNP: rs869312898
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000210418 SCV000266459 likely pathogenic Orofaciodigital syndrome type 6 2015-09-01 criteria provided, single submitter research
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000210418 SCV002555732 likely pathogenic Orofaciodigital syndrome type 6 2024-07-01 criteria provided, single submitter clinical testing Variant summary: CPLANE1 c.4034A>G (p.Gln1345Arg) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-06 in 1613686 control chromosomes. c.4034A>G has been reported in the literature in 2 homozygous family members (Bayram_2015) and at least one unrelated compound heterozygous individual (Romani_2015) affected with Orofaciodigital Syndrome 6. 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: 25407461, 25846457). ClinVar contains an entry for this variant (Variation ID: 224854). Based on the evidence outlined above, the variant was classified as likely pathogenic.

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