ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.9821C>G (p.Thr3274Ser)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002938046 SCV003262061 benign Spastic paraplegia 2025-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV003170586 SCV003868772 uncertain significance Inborn genetic diseases 2023-01-26 criteria provided, single submitter clinical testing The c.9821C>G (p.T3274S) alteration is located in exon 10 (coding exon 9) of the SACS gene. This alteration results from a C to G substitution at nucleotide position 9821, causing the threonine (T) at amino acid position 3274 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004763480 SCV005369715 uncertain significance not provided 2023-05-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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