ClinVar Miner

Submissions for variant NM_001287.6(CLCN7):c.1841T>G (p.Leu614Arg)

dbSNP: rs1064794323
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioinformatics Research Center, Pavlov First St. Petersburg State Medical University RCV001255865 SCV001190007 likely pathogenic Autosomal dominant osteopetrosis 2 2020-03-17 criteria provided, single submitter clinical testing The c.T1769G (p.Leu614Arg) is novel and has not been reported in the 1000 Genomes Project build 20130502 (2,504 samples, accessed 9/18/2019), dpSNP build 153 (accessed 9/18/2019), or Exome Aggregation Consortium (ExAC, 60,706 samples, accessed 9/18/2019) database. A different mutation in the same position was reported in ClinVar database (rs1064794323 - Leu614Pro) in a child with severe osteopetrosis, anemia, blindness, neurological impairment and macrocephaly, who died at 4 years of age, and also had a deletion in exon 17 of the CLCN7 gene (Frattini et al., 2003).

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