ClinVar Miner

Submissions for variant NM_058246.4(DNAJB6):c.547A>G (p.Ser183Gly)

gnomAD frequency: 0.00001  dbSNP: rs772598402
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000353998 SCV000339608 uncertain significance not provided 2016-02-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859645 SCV002122075 uncertain significance Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2025-01-05 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 183 of the DNAJB6 protein (p.Ser183Gly). This variant is present in population databases (rs772598402, gnomAD 0.002%). This missense change has been observed in individual(s) with clinical features of DNAJB6-related conditions (PMID: 30564623). ClinVar contains an entry for this variant (Variation ID: 286253). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Not Available". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005238845 SCV005883545 uncertain significance not specified 2024-12-13 criteria provided, single submitter clinical testing Variant summary: DNAJB6 c.547A>G (p.Ser183Gly) results in a non-conservative amino acid change in the encoded protein sequence. Three of four in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 251316 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.547A>G has been reported in the literature in at least one individual affected with Autosomal dominant limb-girdle muscular dystrophy (Nallamilli_2018). These report(s) do not provide unequivocal conclusions about association of the variant with Autosomal dominant limb-girdle muscular dystrophy type 1D. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 30564623). ClinVar contains an entry for this variant (Variation ID: 286253). Based on the evidence outlined above, the variant was classified as uncertain significance.

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