ClinVar Miner

Submissions for variant NM_058246.4(DNAJB6):c.602G>A (p.Arg201Lys)

gnomAD frequency: 0.00010  dbSNP: rs373070679
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000399250 SCV000339623 likely benign not specified 2016-12-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000648069 SCV000769879 uncertain significance Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2024-12-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 201 of the DNAJB6 protein (p.Arg201Lys). This variant is present in population databases (rs373070679, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with DNAJB6-related conditions. ClinVar contains an entry for this variant (Variation ID: 286265). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt DNAJB6 protein function with a negative predictive value of 80%. 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.
GeneDx RCV001564257 SCV001787395 likely benign not provided 2021-02-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298342 SCV003994427 uncertain significance Inborn genetic diseases 2023-04-24 criteria provided, single submitter clinical testing The c.602G>A (p.R201K) alteration is located in exon 7 (coding exon 6) of the DNAJB6 gene. This alteration results from a G to A substitution at nucleotide position 602, causing the arginine (R) at amino acid position 201 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV001564257 SCV004159364 uncertain significance not provided 2023-10-01 criteria provided, single submitter clinical testing

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