ClinVar Miner

Submissions for variant NM_001813.3(CENPE):c.4273G>A (p.Gly1425Arg)

gnomAD frequency: 0.00075  dbSNP: rs116330917
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001819684 SCV002070778 uncertain significance not specified 2019-05-21 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252708 SCV002522933 likely benign See cases 2021-12-09 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, BS2, BP4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001819684 SCV005727042 uncertain significance not specified 2024-11-06 criteria provided, single submitter clinical testing Variant summary: CENPE c.4273G>A (p.Gly1425Arg) results in a non-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 0.00017 in 251292 control chromosomes, predominantly at a frequency of 0.0021 within the African or African-American subpopulation in the gnomAD database. This frequency is not significantly higher than estimated for a pathogenic variant in CENPE causing Microcephaly 13, Primary, Autosomal Recessive, allowing no conclusion about variant significance. To our knowledge, no occurrence of c.4273G>A in individuals affected with Microcephaly 13, Primary, Autosomal Recessive and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1337198). Based on the evidence outlined above, the variant was classified as uncertain significance.

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