ClinVar Miner

Submissions for variant NM_015915.5(ATL1):c.1193C>A (p.Ser398Tyr)

dbSNP: rs864622083
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000203941 SCV000259291 likely pathogenic Hereditary spastic paraplegia 3A 2015-07-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Likely Pathogenic. A different missense substitution at this codon (p.Ser398Phe) is reported to be deleterious (PMID: 19735987). This suggests that the serine residue is important for ATL1 protein function. This variant has been reported in the literature and is not present in population databases. This variant was reported in an individual affected with autosomal dominant hereditary spastic paraplegia, although it is unclear if this variant segregated with disease (PMID: 15596607). This sequence change replaces serine with tyrosine at codon 398 of the ATL1 protein (p.Ser398Tyr). The serine residue is moderately conserved and there is a large physicochemical difference between serine and tyrosine.
Inherited Neuropathy Consortium Ii, University Of Miami RCV000203941 SCV004011932 uncertain significance Hereditary spastic paraplegia 3A 2016-01-06 no assertion criteria provided literature only

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