ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.9173T>G (p.Leu3058Arg)

gnomAD frequency: 0.00001  dbSNP: rs758654165
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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 RCV000516989 SCV000614993 uncertain significance not specified 2017-01-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002525076 SCV003264319 likely benign Spastic paraplegia 2023-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004955574 SCV005498814 uncertain significance Inborn genetic diseases 2024-11-27 criteria provided, single submitter clinical testing The c.9173T>G (p.L3058R) alteration is located in exon 10 (coding exon 9) of the SACS gene. This alteration results from a T to G substitution at nucleotide position 9173, causing the leucine (L) at amino acid position 3058 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001829476 SCV002086200 uncertain significance Charlevoix-Saguenay spastic ataxia 2019-11-11 no assertion criteria provided clinical testing

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