ClinVar Miner

Submissions for variant NM_000883.4(IMPDH1):c.969G>T (p.Lys323Asn)

dbSNP: rs761583072
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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 RCV001879212 SCV002141888 uncertain significance not provided 2024-10-22 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 323 of the IMPDH1 protein (p.Lys323Asn). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with retinitis pigmentosa (internal data). ClinVar contains an entry for this variant (Variation ID: 1371890). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant disrupts the p.Lys323 amino acid residue in IMPDH1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 16038673, 28488341, 28559085; internal data). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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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