ClinVar Miner

Submissions for variant NM_018418.5(SPATA7):c.1006G>T (p.Ala336Ser)

dbSNP: rs765393196
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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 RCV001317430 SCV001508093 uncertain significance Leber congenital amaurosis 3 2020-07-09 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 336 of the SPATA7 protein (p.Ala336Ser). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SPATA7-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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