ClinVar Miner

Submissions for variant NM_018418.5(SPATA7):c.1513A>G (p.Ile505Val)

gnomAD frequency: 0.00001  dbSNP: rs745567483
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001237195 SCV001409946 uncertain significance Leber congenital amaurosis 3 2024-01-23 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 505 of the SPATA7 protein (p.Ile505Val). This variant is present in population databases (rs745567483, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with SPATA7-related conditions. ClinVar contains an entry for this variant (Variation ID: 963197). 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 SPATA7 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.

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