ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.2301del (p.Asp768fs) (rs386834191)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050185 SCV000082595 probable-pathogenic Meckel syndrome, type 3 no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Sydney Genome Diagnostics,Children's Hospital Westmead RCV000050185 SCV001449456 pathogenic Meckel syndrome, type 3 2018-09-05 no assertion criteria provided clinical testing This fetus is also heterozygous for a second known pathogenic variant, c.2301del, in the TMEM67 gene. This frameshifting variant (dbSNP: rs386834191) is predicted to create a premature stop codon downstream (p.Asp768Ilefs*5), and may result in a null allele due to nonsense-mediated mRNA decay. This variant has been previously reported in a fetus with Meckel syndrome (Iannicelli et al 2010 Hum Mutat 31:E1319-1331). Other truncating variants downstream have also been reported in fetuses with Meckel syndrome (Iannicelli et al 2010 Hum Mutat 31:E1319-1331; Khaddour et al 2007 Hum Mutat 28:523-524).

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