ClinVar Miner

Submissions for variant NM_001177316.2(SLC34A3):c.1612C>T (p.Arg538Trp)

gnomAD frequency: 0.00017  dbSNP: rs140319849
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001915969 SCV002181802 uncertain significance not provided 2022-04-30 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 538 of the SLC34A3 protein (p.Arg538Trp). This variant is present in population databases (rs140319849, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with SLC34A3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV002478345 SCV002783258 uncertain significance Autosomal recessive hypophosphatemic bone disease 2024-01-24 criteria provided, single submitter clinical testing
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University RCV002478345 SCV005368545 likely pathogenic Autosomal recessive hypophosphatemic bone disease 2024-08-26 no assertion criteria provided clinical testing Variant_type:missense/MutationTaster:Polymorphism/CADD:Damaging/phyloP:Nonconserved/phastCons:Nonconserved/gnomAD_exome_EastAsian:0.0017/ExAC_EastAsian:0.0031/dbSNP:rs140319849

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