ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.315-7_315-5delinsAAA (rs1060503775)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467528 SCV000554060 uncertain significance Paraganglioma and gastric stromal sarcoma; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3 2018-04-04 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the SDHD gene. It does not directly change the encoded amino acid sequence of the SDHD protein. This variant is reported as three separate single-nucleotide changes in the ExAC database (c.315-7T>A, 315-6C>A and c.315-5T>A), but the read data shows that the three variants are in cis, recapitulating the variant observed here (c.315-7_315-5delTCTinsAAA). However, the frequency data for this variant (no rsID) in the population databases is unreliable, as metrics indicate poor quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with SDHD-related disease. ClinVar contains an entry for this variant (Variation ID: 412508). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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