ClinVar Miner

Submissions for variant NM_014946.3(SPAST):c.1165A>G (p.Thr389Ala) (rs786204132)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168104 SCV000218760 pathogenic Spastic paraplegia 4, autosomal dominant 2014-10-29 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 389 of the SPAST protein (p.Thr389Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine. This sequence change has not been published in the literature and is not present in population databases. This missense change is located within a functionally conserved Walker Motif A domain of the SPAST protein (PMID: 11809724) and a significant number of previously reported missense mutations have been found within this domain (PMID: 10699187, 20665701, 11809724). These observations suggest that a novel missense substitution within this domain may affect protein function, although this has not been experimentally tested. This missense change was found to be de novo in an affected patient (Invitae internal database). For these reasons, this sequence change has been classified as Pathogenic.

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