Submissions for variant NM_003052.5(SLC34A1):c.398C>T (p.Ala133Val)

gnomAD frequency: 0.00298  dbSNP: rs148976897

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000358499	SCV000456670	likely benign	Hypophosphatemic nephrolithiasis/osteoporosis 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000957594	SCV001104405	likely benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000957594	SCV001779576	likely benign	not provided	2021-03-22	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 16688119, 30778725, 31188746, 28893421, 26787776)
Fulgent Genetics, Fulgent Genetics	RCV002488784	SCV002807329	likely benign	Hypophosphatemic nephrolithiasis/osteoporosis 1; Fanconi renotubular syndrome 2; Hypercalcemia, infantile, 2	2022-04-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000957594	SCV004158107	likely benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing	SLC34A1: BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000957594	SCV005222564	likely benign	not provided		criteria provided, single submitter	not provided
Yale Center for Mendelian Genomics, Yale University	RCV000662331	SCV000784663	likely pathogenic	Nephrocalcinosis	2017-09-08	no assertion criteria provided	literature only
PreventionGenetics, part of Exact Sciences	RCV004544659	SCV004771901	likely benign	SLC34A1-related disorder	2020-10-13	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).