ClinVar Miner

Submissions for variant NM_001127713.1(ATL1):c.773A>G (p.His258Arg) (rs119476048)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000004596 SCV001406147 pathogenic Hereditary spastic paraplegia 3A 2019-07-09 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 258 of the ATL1 protein (p.His258Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with hereditary spastic paraplegia in a family (PMID: 11685207). ClinVar contains an entry for this variant (Variation ID: 4348). This variant has been reported to have conflicting or insufficient data to determine the effect on ATL1 protein function (PMID: 16537571, 25761634). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000004596 SCV000024770 pathogenic Hereditary spastic paraplegia 3A 2001-11-01 no assertion criteria provided literature only
GeneReviews RCV000004596 SCV000041296 pathologic Hereditary spastic paraplegia 3A 2010-09-21 no assertion criteria provided curation Converted during submission to Pathogenic.

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