ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.905-3C>T (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 Mental retardation 3, X-linked 2020-10-26 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, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs200367055, ExAC 0.02%). This variant has not been reported in the literature in individuals with HCFC1-related disease. ClinVar contains an entry for this variant (Variation ID: 211137). Nucleotide substitutions within 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, but this prediction has not been confirmed by published transcriptional studies. 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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