ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.44_52+24del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001211322 SCV001382856 likely pathogenic Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3 2019-07-18 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing part of exon 1 (c.44_52+24del) of the SDHD gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with SDHD-related conditions. Loss-of-function variants in SDHD are known to be pathogenic (PMID: 19454582, 19802898). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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