ClinVar Miner

Submissions for variant NC_000005.10:g.55247753A>G

dbSNP: rs1579734448
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rare Disease Group, Clinical Genetics, Karolinska Institutet RCV000984621 SCV000924636 pathogenic Stuve-Wiedemann syndrome 2019-06-24 no assertion criteria provided research This homozygous variant was found in two siblings. First an affected male deceased two days after his birth and an affected female deceased when she was six years old. Parents are heterozygous carriers. Sequencing of cDNA from affected patient shows that this c.1699+4A>G (NC_000005.10:g.55247753A>G) variant disrupts splicing, leading to skipping of exon 13 and functional studies show disruption of normal protein function. In summary, the c.1699+4A>G variant meets our criteria to be classified as pathogenic.

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