ClinVar Miner

Submissions for variant NM_015087.5(SPART):c.1309G>T (p.Gly437Cys) (rs139819321)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000636252 SCV000757690 uncertain significance Troyer syndrome 2017-08-16 criteria provided, single submitter clinical testing This sequence change replaces glycine with cysteine at codon 437 of the SPG20 protein (p.Gly437Cys). The glycine residue is highly conserved and there is a large physicochemical difference between glycine and cysteine. This variant is present in population databases (rs139819321, ExAC 0.009%). This variant has not been reported in the literature in individuals with SPG20-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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.
Athena Diagnostics Inc RCV000713446 SCV000844054 uncertain significance not provided 2018-08-08 criteria provided, single submitter clinical testing

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