ClinVar Miner

Submissions for variant NM_018418.5(SPATA7):c.254G>A (p.Arg85Gln)

gnomAD frequency: 0.00002  dbSNP: rs199825301
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001053942 SCV001218229 uncertain significance Leber congenital amaurosis 3 2023-06-16 criteria provided, single submitter clinical testing 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 expected to disrupt SPATA7 protein function. 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. ClinVar contains an entry for this variant (Variation ID: 849891). This variant has not been reported in the literature in individuals affected with SPATA7-related conditions. This variant is present in population databases (rs199825301, gnomAD 0.03%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 85 of the SPATA7 protein (p.Arg85Gln).

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