ClinVar Miner

Submissions for variant NM_020806.5(GPHN):c.64+6C>T

dbSNP: rs750672147
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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 RCV002877365 SCV003240779 uncertain significance Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 2023-08-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with GPHN-related conditions. 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. 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. ClinVar contains an entry for this variant (Variation ID: 2035152). This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change falls in intron 1 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.

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