ClinVar Miner

Submissions for variant NM_000273.3(GPR143):c.455+3A>G

gnomAD frequency: 0.00001  dbSNP: rs776232889
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001378632 SCV001576246 pathogenic not provided 2024-11-13 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the GPR143 gene. It does not directly change the encoded amino acid sequence of the GPR143 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs776232889, gnomAD 0.02%). This variant has been observed in individuals with clinical features of oculocutaneous albinism (PMID: 24526317, 29847651, 31103373). This variant is also known as c.515+3A>G. ClinVar contains an entry for this variant (Variation ID: 1067385). Studies have shown that this variant alters GPR143 gene expression (PMID: 24526317). 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. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001378632 SCV001763744 uncertain significance not provided 2024-06-07 criteria provided, single submitter clinical testing Observed in both the hemizygous and heterozygous states in unrelated individuals with ocular albinism in published literature; however, sequencing of other genes related to this condition was not performed in some cases (PMID: 24526317, 29847651, 31103373, 36672876); Non-canonical splice site variant demonstrated to result in loss of function (PMID: 24526317); This variant is associated with the following publications: (PMID: 29847651, 31103373, 36672876, 24526317)

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