ClinVar Miner

Submissions for variant NM_014946.3(SPAST):c.1292G>A (p.Arg431Gln) (rs748779010)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497999 SCV000590477 uncertain significance not provided 2018-08-08 criteria provided, single submitter clinical testing The R431Q variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R431Q variant is a semi conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a conserved position predicted to be within the AAA ATPase domain, and multiple missense variants in nearby residues have been reported in the Human Gene Mutation Database in association with spastic paraplegia (Stenson et al., 2014), supporting the functional importance of this region of the protein. In silico analysis predicts this variant is probably damaging to the protein structure/function.
GenomeConnect, ClinGen RCV000709819 SCV000840148 not provided Spastic paraplegia 4, autosomal dominant no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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