ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.5129C>T (p.Ala1710Val)

gnomAD frequency: 0.00002  dbSNP: rs754184488
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001462219 SCV001666132 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-10-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005005248 SCV005630006 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2024-04-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004528501 SCV004108279 uncertain significance CEP290-related disorder 2024-08-19 no assertion criteria provided clinical testing The CEP290 c.5129C>T variant is predicted to result in the amino acid substitution p.Ala1710Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.061% of alleles in individuals of Latino descent in gnomAD, including one homozygote. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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