ClinVar Miner

Submissions for variant NM_006796.3(AFG3L2):c.2035C>T (p.Arg679Cys)

gnomAD frequency: 0.00001  dbSNP: rs551015841
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000330348 SCV000407641 likely benign Spinocerebellar ataxia type 28 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Athena Diagnostics RCV000517688 SCV000612289 likely benign not specified 2017-02-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV003168484 SCV003867931 likely benign Inborn genetic diseases 2023-02-23 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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