ClinVar Miner

Submissions for variant NM_003000.3(SDHB):c.191A>G (p.Asp64Gly)

dbSNP: rs200131173
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001294086 SCV001482892 uncertain significance Paragangliomas 4 2019-01-15 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001871749 SCV002276607 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2021-04-05 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 64 of the SDHB protein (p.Asp64Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. 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 SDHB protein function. This variant has not been reported in the literature in individuals with SDHB-related conditions. This variant is not present in population databases (ExAC no frequency).

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