ClinVar Miner

Submissions for variant NM_020806.5(GPHN):c.1238-3C>T

gnomAD frequency: 0.00001  dbSNP: rs1233468655
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001068970 SCV001234107 uncertain significance Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 2023-12-07 criteria provided, single submitter clinical testing This sequence change falls in intron 12 of the GPHN gene. It does not directly change the encoded amino acid sequence of the GPHN protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with GPHN-related conditions. ClinVar contains an entry for this variant (Variation ID: 862278). 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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