ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.4102G>C (p.Asp1368His)

dbSNP: rs184143186
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sydney Genome Diagnostics, Children's Hospital Westmead RCV002267647 SCV002549759 uncertain significance Joubert syndrome 5 2022-02-04 criteria provided, single submitter clinical testing This individual is heterozygous for the c.4102G>C variant in the CEP290 gene, which results in the amino acid substitution of aspartic acid to histidine at residue 1368, p.(Asp1368His). The variant has not been reported in any population databases (i.e. gnomAD v2.1.1, ESP or dbSNP). To our knowledge, this variant has not been previously reported in the literature or any disease specific databases. In silico analysis of pathogenicity (through Alamut Visual v2.13) using PolyPhen2, SIFT and MutationTaster suggest that this variant does not affect protein function and is likely to be benign. However, this analysis alone cannot be used to exclude pathogenicity. This variant is considered to be a variant of uncertain clinical significance (VOUS) according to the ACMG guidelines (evidence used: PM2, PM3_Supporting, BP4).

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