ClinVar Miner

Submissions for variant NM_006736.6(DNAJB2):c.229+1G>A

dbSNP: rs730882139
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000161908 SCV004293979 pathogenic Neuronopathy, distal hereditary motor, autosomal recessive 5 2022-12-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site results in retention of intron 4 causing a premature stop codon and introduces a premature termination codon (PMID: 25274842). The resulting mRNA is expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 183041). Disruption of this splice site has been observed in individual(s) with clinical features of DNAJB2-related conditions (PMID: 25274842). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 4 of the DNAJB2 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product.
OMIM RCV000161908 SCV000211938 pathogenic Neuronopathy, distal hereditary motor, autosomal recessive 5 2014-11-04 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000192265 SCV000928438 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV003447120 SCV004174599 uncertain significance Autosomal recessive distal spinal muscular atrophy 2 2016-01-06 no assertion criteria provided literature only

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