ClinVar Miner

Submissions for variant NM_000143.3(FH):c.305C>T (p.Ala102Val) (rs61753295)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165037 SCV000215735 uncertain significance Hereditary cancer-predisposing syndrome 2017-09-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Illumina Clinical Services Laboratory,Illumina RCV000388495 SCV000356721 uncertain significance Multiple cutaneous leiomyomas 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000296623 SCV000356722 uncertain significance Multiple Cutaneous and Uterine Leiomyomas 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349307 SCV000356723 uncertain significance Fumarase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000349307 SCV000544265 uncertain significance Fumarase deficiency 2018-11-26 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 102 of the FH protein (p.Ala102Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs61753295, ExAC 0.01%). This variant has not been reported in the literature in individuals with FH-related disease. ClinVar contains an entry for this variant (Variation ID: 185591). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.

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