ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.10709T>C (p.Ile3570Thr)

gnomAD frequency: 0.00006  dbSNP: rs763440838
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001442078 SCV001645019 likely benign Spastic paraplegia 2023-09-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV003160779 SCV003871649 uncertain significance Inborn genetic diseases 2023-01-11 criteria provided, single submitter clinical testing The c.10709T>C (p.I3570T) alteration is located in exon 10 (coding exon 9) of the SACS gene. This alteration results from a T to C substitution at nucleotide position 10709, causing the isoleucine (I) at amino acid position 3570 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003405668 SCV004136798 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing SACS: BP4

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