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: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp 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. 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. This variant is present in population databases (rs146812061, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with SLC34A1-related conditions. 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.
Fulgent Genetics, Fulgent Genetics RCV002492105 SCV002797012 uncertain significance Hypophosphatemic nephrolithiasis/osteoporosis 1; Fanconi renotubular syndrome 2; Hypercalcemia, infantile, 2 2024-01-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004970645 SCV005509088 uncertain significance Inborn genetic diseases 2024-10-21 criteria provided, single submitter clinical testing The c.72G>T (p.M24I) alteration is located in exon 2 (coding exon 1) of the SLC34A1 gene. This alteration results from a G to T substitution at nucleotide position 72, causing the methionine (M) at amino acid position 24 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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