Submissions for variant NM_030777.4(SLC2A10):c.1057C>G (p.Leu353Val)

dbSNP: rs200196034

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000200540	SCV000250709	uncertain significance	not provided	2021-01-06	criteria provided, single submitter	clinical testing	Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp	RCV000700242	SCV000828990	likely benign	Arterial tortuosity syndrome	2024-12-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000700242	SCV001298946	uncertain significance	Arterial tortuosity syndrome	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Ambry Genetics	RCV002408873	SCV002715640	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2024-02-01	criteria provided, single submitter	clinical testing	The p.L353V variant (also known as c.1057C>G), located in coding exon 2 of the SLC2A10 gene, results from a C to G substitution at nucleotide position 1057. The leucine at codon 353 is replaced by valine, an amino acid with highly similar properties. This amino acid position is poorly 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.
CeGaT Center for Human Genetics Tuebingen	RCV000200540	SCV005331454	uncertain significance	not provided	2024-08-01	criteria provided, single submitter	clinical testing	SLC2A10: PM2, BP4