ClinVar Miner

Submissions for variant NM_001177316.2(SLC34A3):c.232G>A (p.Gly78Arg)

gnomAD frequency: 0.00011  dbSNP: rs756241784
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001343742 SCV001537748 uncertain significance not provided 2022-03-27 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 78 of the SLC34A3 protein (p.Gly78Arg). This variant is present in population databases (rs756241784, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with SLC34A3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1040148). 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: "Tolerated"; 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 RCV002493762 SCV002775118 uncertain significance Autosomal recessive hypophosphatemic bone disease 2021-12-25 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute RCV002493762 SCV004708190 pathogenic Autosomal recessive hypophosphatemic bone disease 2024-03-08 no assertion criteria provided clinical testing

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