ClinVar Miner

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

gnomAD frequency: 0.00013  dbSNP: rs201728701
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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 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.

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