ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.6030G>T (p.Lys2010Asn)

gnomAD frequency: 0.00004  dbSNP: rs769751841
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518243 SCV000614966 uncertain significance not specified 2016-11-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000803901 SCV000943789 likely benign Spastic paraplegia 2024-01-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001783017 SCV002026516 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001783017 SCV002086244 uncertain significance Charlevoix-Saguenay spastic ataxia 2019-11-11 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003960224 SCV004770551 uncertain significance SACS-related disorder 2024-01-05 no assertion criteria provided clinical testing The SACS c.6030G>T variant is predicted to result in the amino acid substitution p.Lys2010Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0035% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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