ClinVar Miner

Submissions for variant NM_003052.5(SLC34A1):c.1418T>C (p.Ile473Thr)

gnomAD frequency: 0.00001  dbSNP: rs184668287
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001367810 SCV001564176 uncertain significance not provided 2022-05-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SLC34A1-related conditions. This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 473 of the SLC34A1 protein (p.Ile473Thr). This variant is present in population databases (rs184668287, gnomAD 0.01%). ClinVar contains an entry for this variant (Variation ID: 1058648). 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 disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV002488141 SCV002803868 uncertain significance Hypophosphatemic nephrolithiasis/osteoporosis 1; Fanconi renotubular syndrome 2; Hypercalcemia, infantile, 2 2022-05-12 criteria provided, single submitter clinical testing

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