ClinVar Miner

Submissions for variant NM_000554.6(CRX):c.8C>T (p.Ala3Val)

gnomAD frequency: 0.00001  dbSNP: rs762715327
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001057955 SCV001222485 uncertain significance Leber congenital amaurosis 7; Cone-rod dystrophy 2 2023-12-18 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 3 of the CRX protein (p.Ala3Val). This variant is present in population databases (rs762715327, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with CRX-related conditions. ClinVar contains an entry for this variant (Variation ID: 853189). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CRX protein function with a negative predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Dept Of Ophthalmology, Nagoya University RCV003890206 SCV004706287 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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