ClinVar Miner

Submissions for variant NM_001127898.4(CLCN5):c.298C>T (p.Arg100Trp)

gnomAD frequency: 0.00005  dbSNP: rs200225080
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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 RCV003061642 SCV003462336 uncertain significance not provided 2024-02-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 30 of the CLCN5 protein (p.Arg30Trp). This variant is present in population databases (rs200225080, gnomAD 0.02%). This missense change has been observed in individual(s) with hypophosphatemic rickets (PMID: 29758562). This variant is also known as c.298C>T, p.Arg100Trp. ClinVar contains an entry for this variant (Variation ID: 2152346). 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. 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.
Fulgent Genetics, Fulgent Genetics RCV005045241 SCV005682667 uncertain significance Dent disease type 1; Hypophosphatemic rickets, X-linked recessive; X-linked recessive nephrolithiasis with renal failure; Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 2024-03-01 criteria provided, single submitter clinical testing

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