ClinVar Miner

Submissions for variant NM_001127713.1(ATL1):c.1024C>G (p.Pro342Ala) (rs1555365509)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000647931 SCV000769738 uncertain significance Hereditary spastic paraplegia 3A 2017-11-08 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 342 of the ATL1 protein (p.Pro342Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ATL1-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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. Other missense substitutions at this codon (p.Pro342Gln and p.Pro342Ser) have been reported in individuals affected with hereditary spastic paraplegia (PMID: 23108492, 22552817). 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.
Mendelics RCV000647931 SCV001139448 likely pathogenic Hereditary spastic paraplegia 3A 2019-05-28 criteria provided, single submitter clinical testing

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