ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.404C>T (p.Thr135Ile)

dbSNP: rs2135277637
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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 RCV001904546 SCV002126953 uncertain significance Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrome 3 2021-06-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SDHD-related conditions. 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 is not present in population databases (ExAC no frequency). This sequence change replaces threonine with isoleucine at codon 135 of the SDHD protein (p.Thr135Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine.

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