ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.488T>C (p.Ile163Thr)

gnomAD frequency: 0.00001  dbSNP: rs748674789
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001997915 SCV002250000 likely benign Hereditary spastic paraplegia 4 2023-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004044515 SCV004957378 uncertain significance Inborn genetic diseases 2023-10-30 criteria provided, single submitter clinical testing The c.488T>C (p.I163T) alteration is located in exon 2 (coding exon 2) of the SPAST gene. This alteration results from a T to C substitution at nucleotide position 488, causing the isoleucine (I) at amino acid position 163 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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