ClinVar Miner

Submissions for variant NM_000883.4(IMPDH1):c.1800A>G (p.Ter600Trp)

gnomAD frequency: 0.00002  dbSNP: rs747314543
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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 RCV001343677 SCV001537676 uncertain significance not provided 2021-12-16 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the IMPDH1 mRNA. It is expected to extend the length of the IMPDH1 protein by 25 additional amino acid residues. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1040093). This protein extension has been observed in individual(s) with clinical features of inherited retinal dystrophy (Invitae). This variant is present in population databases (rs747314543, gnomAD 0.01%).
Fulgent Genetics, Fulgent Genetics RCV002486396 SCV002784032 uncertain significance Retinitis pigmentosa 10; Leber congenital amaurosis 11 2021-08-06 criteria provided, single submitter clinical testing

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