ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.170-1G>T (rs1306475361)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000641037 SCV000762655 pathogenic Paraganglioma and gastric stromal sarcoma; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3 2018-06-12 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 2 of the SDHD gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported to segregate with paraganglioma in several families (PMID: 18551016, 12509798), and has been observed in several individuals affected with SDHD-related disease (PMID: 12114404, 19075037, 22566194, 29545045). ClinVar contains an entry for this variant (Variation ID: 438434). Experimental studies have shown that this variant causes abnormal splicing which creates a transcript that lacks exon 3, resulting in a downstream truncation (PMID: 12509798). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SDHD are known to be pathogenic (PMID: 19454582, 19802898). For these reasons, this variant has been classified as Pathogenic.
Section on Medical Neuroendocrinolgy,National Institutes of Health RCV000505295 SCV000599538 pathogenic Hereditary Paraganglioma-Pheochromocytoma Syndromes no assertion criteria provided research

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