ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1841A>C (p.Gln614Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003311079 SCV004007465 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-27 criteria provided, single submitter clinical testing The p.Q614P variant (also known as c.1841A>C), located in coding exon 14 of the SDHA gene, results from an A to C substitution at nucleotide position 1841. The glutamine at codon 614 is replaced by proline, an amino acid with similar properties. This amino acid position is conserved. 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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