ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.476T>C (p.Leu159Pro)

dbSNP: rs2135277858
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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 RCV002028869 SCV002290707 uncertain significance Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrome 3 2021-07-11 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SDHD protein function. This variant has not been reported in the literature in individuals affected with SDHD-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 159 of the SDHD protein (p.Leu159Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline.

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