ClinVar Miner

Submissions for variant NM_020806.5(GPHN):c.730-1G>A

dbSNP: rs1567108397
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000761885 SCV000892101 uncertain significance not provided 2018-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855708 SCV002306277 likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 2023-04-20 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 623849). This variant has not been reported in the literature in individuals affected with GPHN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 7 of the GPHN gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GPHN are known to be pathogenic (PMID: 11095995, 23184456, 23393157).

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