ClinVar Miner

Submissions for variant NM_000883.4(IMPDH1):c.1057G>A (p.Val353Ile)

gnomAD frequency: 0.00006  dbSNP: rs121912551
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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 RCV002513068 SCV003292449 uncertain significance not provided 2022-09-10 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 353 of the IMPDH1 protein (p.Val353Ile). This variant is present in population databases (rs121912551, gnomAD 0.008%). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 11875050). This variant is also known as V268I. ClinVar contains an entry for this variant (Variation ID: 14835). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Experimental studies have shown that this missense change affects IMPDH1 function (PMID: 15882147). 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.
OMIM RCV000015960 SCV000036227 pathogenic Retinitis pigmentosa 10 2002-03-01 no assertion criteria provided literature only

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