ClinVar Miner

Submissions for variant NM_058246.4(DNAJB6):c.292_300del (p.Asp98_Phe100del)

dbSNP: rs2116995583
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001973419 SCV002259262 uncertain significance Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2021-04-05 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with DNAJB6-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.292_300del, results in the deletion of 3 amino acid(s) of the DNAJB6 protein (p.Asp98_Phe100del), but otherwise preserves the integrity of the reading frame.

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