ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.302C>T (p.Ser101Leu)

gnomAD frequency: 0.00001  dbSNP: rs746263735
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001233634 SCV001406238 likely benign Hereditary spastic paraplegia 4 2023-08-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002567885 SCV003727488 uncertain significance Inborn genetic diseases 2020-12-29 criteria provided, single submitter clinical testing The c.302C>T (p.S101L) alteration is located in exon 1 (coding exon 1) of the SPAST gene. This alteration results from a C to T substitution at nucleotide position 302, causing the serine (S) at amino acid position 101 to be replaced by a leucine (L). The p.S101L alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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