ClinVar Miner

Submissions for variant NM_003001.3(SDHC):c.179+1G>C (rs1057517818)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492312 SCV000581223 likely pathogenic Hereditary cancer-predisposing syndrome 2016-07-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity,Rarity in general population databases (dbsnp, esp, 1000 genomes)
GeneDx RCV000414585 SCV000490792 likely pathogenic not provided 2016-04-06 criteria provided, single submitter clinical testing The c.179+1G>C splice site variant in the SDHC gene has not bee reported previously as a pathogenicvariant, nor as a benign variant, to our knowledge. This variant was not observed in approximately6,500 individuals of European and African American ancestry in the NHLBI Exome SequencingProject, indicating it is not a common benign variant in these populations. The c.179+1G>C variantdestroys the canonical splice donor site in intron 3, and is expected to cause abnormal gene splicing.Based on the available information, c.179+1G>C is a strong candidate for a pathogenic variant;however, the possibility it may be a rare benign variant cannot be excluded.

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