ClinVar Miner

Submissions for variant NM_003052.5(SLC34A1):c.1559T>C (p.Leu520Pro)

gnomAD frequency: 0.00013  dbSNP: rs201728701
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001924962 SCV002153600 uncertain significance not provided 2022-08-12 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 520 of the SLC34A1 protein (p.Leu520Pro). This variant is present in population databases (rs201728701, gnomAD 0.007%). 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: 1384994). 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: "Deleterious"; PolyPhen-2: "Possibly 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 RCV002482662 SCV002790531 uncertain significance Hypophosphatemic nephrolithiasis/osteoporosis 1; Fanconi renotubular syndrome 2; Hypercalcemia, infantile, 2 2022-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV003289171 SCV003956616 uncertain significance Inborn genetic diseases 2023-04-14 criteria provided, single submitter clinical testing The c.1559T>C (p.L520P) alteration is located in exon 13 (coding exon 12) of the SLC34A1 gene. This alteration results from a T to C substitution at nucleotide position 1559, causing the leucine (L) at amino acid position 520 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.