ClinVar Miner

Submissions for variant NM_003000.3(SDHB):c.20T>A (p.Leu7His)

dbSNP: rs778776844
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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 RCV002012700 SCV002279554 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2021-09-18 criteria provided, single submitter clinical testing 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 not expected to disrupt SDHB protein function. 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 has not been reported in the literature in individuals affected with SDHB-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with histidine at codon 7 of the SDHB protein (p.Leu7His). The leucine residue is weakly conserved and there is a moderate physicochemical difference between leucine and histidine.
Ambry Genetics RCV002423212 SCV002724538 uncertain significance Hereditary cancer-predisposing syndrome 2020-05-27 criteria provided, single submitter clinical testing The p.L7H variant (also known as c.20T>A), located in coding exon 1 of the SDHB gene, results from a T to A substitution at nucleotide position 20. The leucine at codon 7 is replaced by histidine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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