ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.17T>C (p.Leu6Pro)

dbSNP: rs1211574644
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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 RCV001060877 SCV001225593 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2023-05-18 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: 855583). This variant has not been reported in the literature in individuals affected with SDHC-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 6 of the SDHC protein (p.Leu6Pro).
Ambry Genetics RCV004659325 SCV005161255 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-10 criteria provided, single submitter clinical testing The c.17T>C (p.L6P) alteration is located in exon 1 (coding exon 1) of the SDHC gene. This alteration results from a T to C substitution at nucleotide position 17, causing the leucine (L) at amino acid position 6 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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