ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1255A>G (p.Ile419Val)

gnomAD frequency: 0.00009  dbSNP: rs767818359
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596432 SCV000708030 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000596432 SCV002541571 uncertain significance not provided 2021-08-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532605 SCV002996842 benign Spastic paraplegia 2024-09-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002532604 SCV003529373 likely benign Inborn genetic diseases 2022-06-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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