ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.169+5G>C

dbSNP: rs1865657237
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002241352 SCV001401293 uncertain significance Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrome 3 2020-03-08 criteria provided, single submitter clinical testing 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. This variant disrupts the c.169+5 nucleotide in the SDHD gene. Other variant(s) that disrupt this nucleotide have been determined to be pathogenic (PMID: 27986441, 17973943). This suggests that this nucleotide is clinically-significant, and that variants that disrupt this position are likely to be disease-causing. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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. This variant has not been reported in the literature in individuals with SDHD-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 2 of the SDHD gene. It does not directly change the encoded amino acid sequence of the SDHD protein, but it affects a nucleotide within the consensus splice site of the intron.

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