ClinVar Miner

Submissions for variant NM_003052.5(SLC34A1):c.72G>T (p.Met24Ile)

gnomAD frequency: 0.00004  dbSNP: rs146812061
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002004906 SCV002235278 uncertain significance not provided 2021-09-18 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with SLC34A1-related conditions. This variant is present in population databases (rs146812061, ExAC 0.009%). This sequence change replaces methionine with isoleucine at codon 24 of the SLC34A1 protein (p.Met24Ile). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and isoleucine.
Fulgent Genetics, Fulgent Genetics RCV002492105 SCV002797012 uncertain significance Hypophosphatemic nephrolithiasis/osteoporosis 1; Fanconi renotubular syndrome 2; Hypercalcemia, infantile, 2 2022-05-30 criteria provided, single submitter clinical testing

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