ClinVar Miner

Submissions for variant NM_000143.3(FH):c.190A>G (p.Asn64Asp) (rs886046319)

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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 RCV000570874 SCV000673380 uncertain significance Hereditary cancer-predisposing syndrome 2016-09-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Illumina Clinical Services Laboratory,Illumina RCV000387476 SCV000356724 uncertain significance Fumarase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281496 SCV000356725 uncertain significance Multiple Cutaneous and Uterine Leiomyomas 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000338926 SCV000356726 uncertain significance Multiple cutaneous leiomyomas 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000387476 SCV000756717 uncertain significance Fumarase deficiency 2018-07-17 criteria provided, single submitter clinical testing This sequence change replaces asparagine with aspartic acid at codon 64 of the FH protein (p.Asn64Asp). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FH-related disease. ClinVar contains an entry for this variant (Variation ID: 296875). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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