ClinVar Miner

Submissions for variant NM_000751.3(CHRND):c.820+5G>A

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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 RCV003067892 SCV003460058 uncertain significance Lethal multiple pterygium syndrome 2022-04-18 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the CHRND gene. It does not directly change the encoded amino acid sequence of the CHRND protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with CHRND-related conditions. 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 may disrupt the consensus splice site. 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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