ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.5903C>T (p.Ala1968Val)

gnomAD frequency: 0.00011  dbSNP: rs201866523
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001242782 SCV001415892 likely benign Spastic paraplegia 2024-12-16 criteria provided, single submitter clinical testing
GeneDx RCV001732089 SCV001983830 uncertain significance not provided 2021-10-12 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
Genome-Nilou Lab RCV001780180 SCV002026632 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002564044 SCV003714812 uncertain significance Inborn genetic diseases 2022-12-14 criteria provided, single submitter clinical testing The c.5903C>T (p.A1968V) alteration is located in exon 10 (coding exon 9) of the SACS gene. This alteration results from a C to T substitution at nucleotide position 5903, causing the alanine (A) at amino acid position 1968 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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