ClinVar Miner

Submissions for variant NM_015087.5(SPART):c.1172A>T (p.Asp391Val)

dbSNP: rs148833652
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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 RCV001308221 SCV001497660 uncertain significance not provided 2017-11-16 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with valine at codon 391 of the SPG20 protein (p.Asp391Val). The aspartic acid residue is weakly conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is not present in population databases (ExAC no frequency). 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 (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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