ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.5711C>G (p.Thr1904Arg)

dbSNP: rs758570844
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000995038 SCV001148945 uncertain significance not provided 2017-08-01 criteria provided, single submitter clinical testing
Invitae RCV001419225 SCV001621472 likely benign Spastic paraplegia 2024-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578936 SCV001806298 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-07-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000995038 SCV001880430 uncertain significance not provided 2021-05-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002549896 SCV003739010 uncertain significance Inborn genetic diseases 2021-10-26 criteria provided, single submitter clinical testing The c.5711C>G (p.T1904R) 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 5711, causing the threonine (T) at amino acid position 1904 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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