ClinVar Miner

Submissions for variant NM_005660.3(SLC35A2):c.826C>T (p.Leu276Phe)

gnomAD frequency: 0.00001  dbSNP: rs782737391
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000377201 SCV000334161 uncertain significance not provided 2015-09-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429215 SCV002681445 uncertain significance Inborn genetic diseases 2017-07-12 criteria provided, single submitter clinical testing The p.L276F variant (also known as c.826C>T), located in coding exon 4 of the SLC35A2 gene, results from a C to T substitution at nucleotide position 826. The leucine at codon 276 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002521886 SCV003279765 benign SLC35A2-congenital disorder of glycosylation 2024-07-03 criteria provided, single submitter clinical testing

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