ClinVar Miner

Submissions for variant NM_015087.5(SPART):c.1172A>G (p.Asp391Gly) (rs148833652)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000197093 SCV000255013 uncertain significance Troyer syndrome 2018-05-03 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 391 of the SPG20 protein (p.Asp391Gly). The aspartic acid residue is weakly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is present in population databases (rs148833652, ExAC 0.2%). This variant has not been reported in the literature in individuals with SPG20-related disease. ClinVar contains an entry for this variant (Variation ID: 216687). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Illumina Clinical Services Laboratory,Illumina RCV000197093 SCV000383952 uncertain significance Troyer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713445 SCV000844053 uncertain significance not provided 2018-04-24 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000713445 SCV000892068 uncertain significance not provided 2018-09-30 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000197093 SCV000896374 uncertain significance Troyer syndrome 2018-10-31 criteria provided, single submitter clinical testing

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