Submissions for variant NM_030777.4(SLC2A10):c.931G>A (p.Val311Ile)

gnomAD frequency: 0.00026  dbSNP: rs139932041

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000196120	SCV000250707	uncertain significance	not provided	2023-04-28	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Reported in patients with pulmonary arterial hypertension or with familial intracranial aneurysms (Abou Hassan et al., 2018; Song et al., 2022); This variant is associated with the following publications: (PMID: 34668355, 29843651)
Ambry Genetics	RCV001171030	SCV000318874	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2022-01-31	criteria provided, single submitter	clinical testing	The c.931G>A (p.V311I) alteration is located in exon 2 (coding exon 2) of the SLC2A10 gene. This alteration results from a G to A substitution at nucleotide position 931, causing the valine (V) at amino acid position 311 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Illumina Laboratory Services, Illumina	RCV000340579	SCV000434162	uncertain significance	Arterial tortuosity syndrome	2018-01-13	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.
Invitae	RCV000340579	SCV000644171	likely benign	Arterial tortuosity syndrome	2024-01-31	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001171030	SCV001333699	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-11-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000196120	SCV001962391	likely benign	not provided	2021-08-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000340579	SCV002048553	uncertain significance	Arterial tortuosity syndrome	2021-09-13	criteria provided, single submitter	clinical testing	The SLC2A10 c.931G>A; p.Val311Ile variant (rs139932041), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 213720). This variant is found in the general population with an overall allele frequency of 0.029% (81/282,340 alleles) in the Genome Aggregation Database. The valine at codon 311 is moderately conserved, but computational analyses predict that this variant is neutral (REVEL: 0.14). Due to limited information, the clinical significance of the p.Val311Ile variant is uncertain at this time.