ClinVar Miner

Submissions for variant NM_006736.6(DNAJB2):c.352+1G>A (rs756614404)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000201941 SCV000936697 pathogenic Spinal muscular atrophy, distal, autosomal recessive, 5 2019-07-31 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 5 of the DNAJB2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs756614404, ExAC 0.002%). This variant has been reported in the homozygous state in multiple individuals affected with distal hereditary motor neuropathy (dHMN) or Charcot-Marie-Tooth (CMT) and has been observed to segregate with disease in several families (PMID: 22522442, 27083531). ClinVar contains an entry for this variant (Variation ID: 217886). Experimental studies have shown that this splicing variant results in the retention of full or partial intron 5 sequence and the abnormal transcripts contain premature termination codons. In addition, DNAJB2 protein expression was significantly reduced in fibroblasts derived from affected individuals (PMID: 22522442). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000201941 SCV000256882 pathogenic Spinal muscular atrophy, distal, autosomal recessive, 5 2014-08-08 no assertion criteria provided clinical testing
Inherited Neuropathy Consortium RCV000789088 SCV000928437 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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