ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.244G>T (p.Val82Phe)

dbSNP: rs570325845
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000461822 SCV000546041 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2023-10-18 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 82 of the SDHC protein (p.Val82Phe). This variant is present in population databases (rs570325845, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SDHC-related conditions. ClinVar contains an entry for this variant (Variation ID: 407061). 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 tolerated. 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.
Ambry Genetics RCV002446798 SCV002732749 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-04 criteria provided, single submitter clinical testing The p.V82F variant (also known as c.244G>T), located in coding exon 5 of the SDHC gene, results from a G to T substitution at nucleotide position 244. The valine at codon 82 is replaced by phenylalanine, an amino acid with highly similar properties. In one study, this alteration was reported in 3/1020 healthy Spanish individuals (López-Jiménez E et al. Clin. Endocrinol. (Oxf), 2008 Dec;69:906-10). This amino acid position is highly 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.
Baylor Genetics RCV004567981 SCV005056655 uncertain significance Gastrointestinal stromal tumor 2024-03-24 criteria provided, single submitter clinical testing

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