ClinVar Miner

Submissions for variant NM_014946.3(SPAST):c.1526C>T (p.Pro509Leu) (rs1443578852)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713468 SCV000844079 uncertain significance not provided 2018-02-13 criteria provided, single submitter clinical testing
Institute of Human Genetics,University of Goettingen RCV000790426 SCV000925753 uncertain significance Spastic paraplegia 4, autosomal dominant 2019-06-05 criteria provided, single submitter clinical testing For the following reasons we consider the variant as a variant of uncertain significance with possibly pathogenic character: 1. a comparison with the ExAC and gnomAD browsers did not provide any evidence that this sequence change is a norm variant that can also be detected in non-infected individuals; 2. the mutation type is known to be pathogenic in the disease of question (Spastic paraplegia); 3. the variant is uniformly classified as probably damaging/disease causing by four independent prediction programs (M-CAP; MutationTaster; PolyPhen-2; SIFT)

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