ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.82G>T (p.Val28Phe)

gnomAD frequency: 0.00001  dbSNP: rs754818119
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000707254 SCV000836344 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2023-06-12 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 583030). This variant has not been reported in the literature in individuals affected with SDHC-related conditions. This variant is present in population databases (rs754818119, gnomAD 0.0009%). This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 28 of the SDHC protein (p.Val28Phe).
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV001258164 SCV001435052 uncertain significance Paragangliomas 3 criteria provided, single submitter clinical testing
Ambry Genetics RCV002424725 SCV002679227 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-07 criteria provided, single submitter clinical testing The p.V28F variant (also known as c.82G>T), located in coding exon 3 of the SDHC gene, results from a G to T substitution at nucleotide position 82. The valine at codon 28 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is not well 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.
Fulgent Genetics, Fulgent Genetics RCV002485777 SCV002780687 uncertain significance Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Paragangliomas 3 2022-04-15 criteria provided, single submitter clinical testing

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