Submissions for variant NM_001177316.2(SLC34A3):c.2T>C (p.Met1Thr)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003877530	SCV004684460	pathogenic	not provided	2025-01-15	criteria provided, single submitter	clinical testing	This sequence change affects the initiator methionine of the SLC34A3 mRNA. The next in-frame methionine is located at codon 145. This variant is present in population databases (rs748739254, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SLC34A3-related conditions. ClinVar contains an entry for this variant (Variation ID: 3020355). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant disrupts a region of the SLC34A3 protein in which other variant(s) (p.Thr137Met) have been determined to be pathogenic (PMID: 18480181). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics	RCV005040606	SCV005675301	likely pathogenic	Autosomal recessive hypophosphatemic bone disease	2024-06-12	criteria provided, single submitter	clinical testing