ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.134C>A (p.Pro45Gln)

gnomAD frequency: 0.00063  dbSNP: rs121908517
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000584902 SCV000692983 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000845266 SCV001004668 likely benign Hereditary spastic paraplegia 4 2024-12-03 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000845266 SCV001301529 uncertain significance Hereditary spastic paraplegia 4 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV000584902 SCV001790181 likely benign not provided 2020-09-25 criteria provided, single submitter clinical testing Identified in an adult with pure HSP who also harbored a nonsense variant. Authors predict P45Q may act as a phenotype modifier when occurring in the presence of another spastin mutation (McDermott et al., 2006); Reported previously in multiple members of one family (Svenson et al., 2004). Two of the family members were affected with hereditary spastic paraplegia and two of the family members were asymptomatic (Svenson et al., 2004); This variant is associated with the following publications: (PMID: 30834979, 16832076, 20301339, 19730024, 15248095)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847588 SCV002105599 uncertain significance Hereditary spastic paraplegia 2019-03-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004998076 SCV005621756 likely benign not specified 2024-07-15 criteria provided, single submitter clinical testing
OMIM RCV000006026 SCV000026208 risk factor Spastic paraplegia 4, modifier of 2004-09-01 no assertion criteria provided literature only
GeneReviews RCV000845266 SCV000987270 not provided Hereditary spastic paraplegia 4 no assertion provided literature only

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