ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.7100C>T (p.Ala2367Val)

gnomAD frequency: 0.00001  dbSNP: rs752273313
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000690739 SCV000818440 likely benign Spastic paraplegia 2023-10-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002547157 SCV003631590 uncertain significance Inborn genetic diseases 2022-07-08 criteria provided, single submitter clinical testing The c.7100C>T (p.A2367V) 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 7100, causing the alanine (A) at amino acid position 2367 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001275189 SCV001460047 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-01-17 no assertion criteria provided clinical testing

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