ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.5583G>C (p.Trp1861Cys)

gnomAD frequency: 0.00032  dbSNP: rs140678034
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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 RCV002473033 SCV000614962 uncertain significance not provided 2021-08-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002527519 SCV003267666 likely benign Spastic paraplegia 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002525073 SCV003726994 uncertain significance Inborn genetic diseases 2022-08-30 criteria provided, single submitter clinical testing The c.5583G>C (p.W1861C) alteration is located in exon 10 (coding exon 9) of the SACS gene. This alteration results from a G to C substitution at nucleotide position 5583, causing the tryptophan (W) at amino acid position 1861 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001276941 SCV001463607 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-09-16 no assertion criteria provided clinical testing

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