ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.647C>G (p.Thr216Ser)

dbSNP: rs374578162
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001172135 SCV001335093 uncertain significance not provided 2020-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003246743 SCV003966180 uncertain significance Inborn genetic diseases 2023-03-21 criteria provided, single submitter clinical testing The c.647C>G (p.T216S) alteration is located in exon 4 (coding exon 4) of the SPAST gene. This alteration results from a C to G substitution at nucleotide position 647, causing the threonine (T) at amino acid position 216 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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