ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.1382C>T (p.Ala461Val)

dbSNP: rs2113698650
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital RCV001779964 SCV002015213 likely pathogenic Atelosteogenesis type II 2021-11-17 no assertion criteria provided clinical testing This variant has not been identified in gnomAD and 1000g databases. This mis-sense variant is present in compound heterozygous state with another stop gain variant c.532C>T (p.R178X) in SLC26A2 gene. Phenotype observed in the proband was severe shortening of all long bones, exaggerated lumbar lordosis, big toe and radial shortening. Atelosteogenesis II is an autosomal recessive disorder and can be caused by Homozygous or Compound heterozygous mutations. Based on phenotypic overall and identified variant we classify this as likely pathogenic variant.

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