ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.315-1G>A

dbSNP: rs1555187566
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521177 SCV000621106 likely pathogenic not provided 2018-07-17 criteria provided, single submitter clinical testing This variant is denoted SDHD c.315-1G>A or IVS3-1G>A and consists of a G>A nucleotide substitutionat the -1 position of intron 3 of the SDHD gene. This variant destroys a canonical splice acceptor site and is predictedto cause abnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNAdecay or to an abnormal protein product. This variant has not, to our knowledge, been published in the literature.Based on the currently available information, we consider SDHD c.315-1G>A to be a likely pathogenic variant. Of note,variants in the SDHD gene exhibit a parent-of-origin effect and, if shown to be pathogenic, typically cause symptomsonly if inherited from the father.
Fulgent Genetics, Fulgent Genetics RCV002481730 SCV002802606 likely pathogenic Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Mitochondrial complex 2 deficiency, nuclear type 3 2021-12-17 criteria provided, single submitter clinical testing

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