ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.905-3C>T

gnomAD frequency: 0.00019  dbSNP: rs200367055
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195219 SCV000247552 uncertain significance not specified 2015-08-03 criteria provided, single submitter clinical testing
Invitae RCV001325203 SCV001516188 uncertain significance Methylmalonic acidemia with homocystinuria, type cblX 2022-04-03 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the HCFC1 gene. It does not directly change the encoded amino acid sequence of the HCFC1 protein. It affects a nucleotide within the consensus splice site. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with HCFC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 211137). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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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