ClinVar Miner

Submissions for variant NM_003052.5(SLC34A1):c.580G>A (p.Gly194Ser)

dbSNP: rs370983881
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001358957 SCV001554814 uncertain significance not provided 2023-07-09 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 194 of the SLC34A1 protein (p.Gly194Ser). This variant is present in population databases (rs370983881, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SLC34A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1050980). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SLC34A1 protein function. 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 RCV002499723 SCV002786582 uncertain significance Hypophosphatemic nephrolithiasis/osteoporosis 1; Fanconi renotubular syndrome 2; Hypercalcemia, infantile, 2 2022-02-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001358957 SCV003825678 uncertain significance not provided 2021-05-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004531156 SCV004117582 uncertain significance SLC34A1-related disorder 2023-03-30 criteria provided, single submitter clinical testing The SLC34A1 c.580G>A variant is predicted to result in the amino acid substitution p.Gly194Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.019% of alleles in individuals of Ashkenazi Jewish descent in gnomAD (http://gnomad.broadinstitute.org/variant/5-176814810-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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