ClinVar Miner

Submissions for variant NM_144585.4(SLC22A12):c.650C>T (p.Thr217Met)

gnomAD frequency: 0.00004  dbSNP: rs121907893
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000003690 SCV001752548 likely pathogenic Dalmatian hypouricemia 2024-01-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001851625 SCV002259167 likely pathogenic not provided 2024-10-31 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 217 of the SLC22A12 protein (p.Thr217Met). This variant is present in population databases (rs121907893, gnomAD 0.05%). This missense change has been observed in individual(s) with clinical features of hypouricemia (PMID: 12024214, 14694169, 23043931, 31591475). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 3513). 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. Experimental studies have shown that this missense change affects SLC22A12 function (PMID: 12024214). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000003690 SCV000023853 pathogenic Dalmatian hypouricemia 2002-05-23 no assertion criteria provided literature only

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