ClinVar Miner

Submissions for variant NM_000143.4(FH):c.490del (p.Met164fs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003316968 SCV004018069 pathogenic Hereditary leiomyomatosis and renal cell cancer 2023-02-16 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Baylor Genetics RCV003466053 SCV004197376 likely pathogenic Fumarase deficiency 2023-02-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003575074 SCV004338236 pathogenic not provided 2023-11-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met164Cysfs*2) in the FH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FH are known to be pathogenic (PMID: 11865300, 21398687). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FH-related conditions. ClinVar contains an entry for this variant (Variation ID: 2573279). For these reasons, this variant has been classified as Pathogenic.

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