ClinVar Miner

Submissions for variant NM_000390.4(CHM):c.1714G>A (p.Val572Ile)

dbSNP: rs2148120495
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV002272002 SCV002556331 uncertain significance Choroideremia 2022-08-01 criteria provided, single submitter case-control The variant c.1714G>A (p.(Val572Ile)) in exon 14 of the CHM-gene is not found in the gnomAD database, it affects a weakly conserved nucleotide, a highly conserved amino acid within a protein domain and there is a small physicochemical difference between Val and Met. This variant has a benign computational verdict based on in silico predictions algorithms. ACMG criteria used for classification: PM2, BP4.

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