ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.86C>T (p.Pro29Leu)

dbSNP: rs1671145169
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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 RCV001208446 SCV001379834 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2023-04-08 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 29 of the SDHC protein (p.Pro29Leu). This variant has not been reported in the literature in individuals affected with SDHC-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. 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: 939110).

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