Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Institute of Human Genetics Munich, |
RCV000001493 | SCV000608397 | pathogenic | Autosomal recessive hypophosphatemic bone disease | 2017-09-30 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000001493 | SCV002819700 | likely pathogenic | Autosomal recessive hypophosphatemic bone disease | 2022-12-02 | criteria provided, single submitter | clinical testing | Variant summary: SLC34A3 c.1238C>A (p.Ala413Glu) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 248528 control chromosomes (gnomAD). c.1238C>A has been reported in the literature in the compound heterozygous state in trans with a pathogenic variant in two siblings affected with Hereditary Hypophosphatemic Rickets With Hypercalciuria from a family in which the variant was found to segregate with the disease phenotype (Lorenz-Depiereux_2006). These data indicate that the variant is likely associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One submitter has provided a clinical-significance assessment for this variant to ClinVar after 2014 and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| OMIM | RCV000001493 | SCV000021648 | pathogenic | Autosomal recessive hypophosphatemic bone disease | 2006-02-01 | no assertion criteria provided | literature only |