ClinVar Miner

Submissions for variant NM_058246.4(DNAJB6):c.770T>A (p.Leu257His)

dbSNP: rs1554470011
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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 RCV002020852 SCV002306105 uncertain significance Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2021-01-14 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces leucine with histidine at codon 257 of the DNAJB6 protein (p.Leu257His). The leucine residue is weakly conserved and there is a moderate physicochemical difference between leucine and histidine. This variant has not been reported in the literature in individuals with DNAJB6-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0").

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