Submissions for variant NM_001164277.2(SLC37A4):c.1168C>T (p.His390Tyr)

gnomAD frequency: 0.00048  dbSNP: rs199764888

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000730228	SCV000252294	uncertain significance	not provided	2013-12-30	criteria provided, single submitter	clinical testing	p.His390Tyr (CAC>TAC): c.1168 C>T in exon 10 of the SLC37A4 gene (NM_001164277.1) A variant of unknown significance has been identified in the SLC37A4 gene.The H390Y missense substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The H390Y variant is a non-conservative amino acid substitution as these residues differ in polarity, charge, size and/or other properties and is more likely to impact secondary structure. This change occurs at a position in the SLC37A4 protein that is not highly conserved. In-silico analyses are not consistent in their predictions of whether or not H390Y is damaging to the SLC37A4 protein. Therefore, based on the currently available information, it is unclear whether H390Y is a disease-causing mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000698406	SCV000827067	likely benign	Glucose-6-phosphate transport defect	2024-10-31	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000730228	SCV000857949	uncertain significance	not provided	2017-11-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002327041	SCV002627331	uncertain significance	Inborn genetic diseases	2021-09-16	criteria provided, single submitter	clinical testing	The p.H390Y variant (also known as c.1168C>T), located in coding exon 8 of the SLC37A4 gene, results from a C to T substitution at nucleotide position 1168. The histidine at codon 390 is replaced by tyrosine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV003955197	SCV004771264	likely benign	SLC37A4-related disorder	2024-01-16	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).