ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.519A>G (p.Arg173=)

dbSNP: rs1677627735
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198739 SCV001369734 uncertain significance Hereditary spastic paraplegia 4 2018-11-08 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3.
Labcorp Genetics (formerly Invitae), Labcorp RCV001198739 SCV003001518 likely benign Hereditary spastic paraplegia 4 2023-06-05 criteria provided, single submitter clinical testing

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