ClinVar Miner

Submissions for variant NM_000143.3(FH):c.786_806del (p.Lys263_Ile269del) (rs786202220)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164936 SCV000215625 likely pathogenic Hereditary cancer-predisposing syndrome 2015-10-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting pathogenic classification,Rarity in general population databases (dbsnp, esp, 1000 genomes),Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Invitae RCV000471022 SCV000544279 pathogenic Fumarase deficiency 2018-10-22 criteria provided, single submitter clinical testing This variant, c.786_806del, results in the deletion of 7 amino acids of the FH protein (p.Lys263_Ile269del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals and families affected with hereditary leiomyomatosis and renal cell cancer (HLRCC) (Invitae). ClinVar contains an entry for this variant (Variation ID: 185496). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. For these reasons, this variant has been classified as Pathogenic.

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