ClinVar Miner

Submissions for variant NC_000001.10:g.(?_241661078)_(241663787_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004579043 SCV005066556 pathogenic not provided 2020-03-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Although no functional studies have assayed the effect of this particular deletion on FH protein function or stability, several truncating variants in the last exon (p.Gly490Alafs*12, p.Leu492Hisfs*6, p.Glu495Valfs*2, and p.Trp500*) have been determined to be likely pathogenic (PMID: 12772087, 21404119, 16597677, 9635293, 21398687, Invitae database). This suggests that the C-terminal region of the FH protein is critical for the proper protein function. This variant has not been reported in the literature in individuals with FH-related conditions. This variant is a gross deletion of the genomic region encompassing exon 10 and part of exon 9 (c.1340_*50del) of the FH gene. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation.

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