ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.5188A>C (p.Ser1730Arg)

dbSNP: rs760926837
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV002474414 SCV002771000 uncertain significance not provided 2023-04-04 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools disagree on the variant's effect on normal protein function.
Labcorp Genetics (formerly Invitae), Labcorp RCV002574697 SCV003467248 likely benign Spastic paraplegia 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004673679 SCV005158989 uncertain significance Inborn genetic diseases 2024-06-16 criteria provided, single submitter clinical testing The c.5188A>C (p.S1730R) alteration is located in exon 10 (coding exon 9) of the SACS gene. This alteration results from a A to C substitution at nucleotide position 5188, causing the serine (S) at amino acid position 1730 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV002474414 SCV005626727 uncertain significance not provided 2024-06-27 criteria provided, single submitter clinical testing In silico analysis indicates 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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