ClinVar Miner

Submissions for variant NM_018418.5(SPATA7):c.553T>C (p.Tyr185His)

gnomAD frequency: 0.00003  dbSNP: rs777789357
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001046734 SCV001210648 uncertain significance Leber congenital amaurosis 3 2021-10-21 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with histidine at codon 185 of the SPATA7 protein (p.Tyr185His). The tyrosine residue is weakly conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is present in population databases (rs777789357, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with SPATA7-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Ambry Genetics RCV002552604 SCV003658451 uncertain significance Inborn genetic diseases 2022-11-01 criteria provided, single submitter clinical testing The c.553T>C (p.Y185H) alteration is located in exon 6 (coding exon 6) of the SPATA7 gene. This alteration results from a T to C substitution at nucleotide position 553, causing the tyrosine (Y) at amino acid position 185 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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