ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.328GTT[1] (p.Val111del)

dbSNP: rs1555187580
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001865641 SCV002204015 uncertain significance Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrome 3 2021-11-23 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with SDHD-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.331_333del, results in the deletion of 1 amino acid(s) of the SDHD protein (p.Val111del), but otherwise preserves the integrity of the reading frame.
Section on Medical Neuroendocrinolgy, National Institutes of Health RCV000505351 SCV000599545 uncertain significance Hereditary pheochromocytoma-paraganglioma no assertion criteria provided research

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