ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.11942A>G (p.Gln3981Arg)

gnomAD frequency: 0.00002  dbSNP: rs747314113
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002485565 SCV002785188 uncertain significance Charlevoix-Saguenay spastic ataxia 2022-03-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002532174 SCV003691739 uncertain significance Inborn genetic diseases 2021-12-20 criteria provided, single submitter clinical testing The c.11942A>G (p.Q3981R) alteration is located in exon 10 (coding exon 9) of the SACS gene. This alteration results from a A to G substitution at nucleotide position 11942, causing the glutamine (Q) at amino acid position 3981 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV000676349 SCV000802123 uncertain significance not provided 2017-06-14 no assertion criteria provided clinical testing

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