ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln) (rs771028960)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000251075 SCV000319257 pathogenic Cardiovascular phenotype 2014-03-27 criteria provided, single submitter clinical testing
Division of Human Genetics,Children's Hospital of Philadelphia RCV000185549 SCV000238431 likely pathogenic Arterial tortuosity syndrome 2015-04-01 no assertion criteria provided research This patient is a carrier of a heterozygous likely pathogenic variant in the SLC2A10 gene implicated in causing arterial tortuosity syndrome (MIM 208050). The SLC2A10 variant (c.692G>A) was identified in several patients and segregated in a family with marked carotid artery pulsations and dysmorphic features (Callewaert et al. 2008, PMID: 17935213; Takahashi e al. 2012, PMID: 23494979).
GeneReviews RCV000185549 SCV000195649 pathogenic Arterial tortuosity syndrome 2014-09-10 no assertion criteria provided literature only
Illumina Clinical Services Laboratory,Illumina RCV000185549 SCV000914960 uncertain significance Arterial tortuosity syndrome 2017-05-09 criteria provided, single submitter clinical testing The SLC2A10 c.692G>A (p.Arg231Gln) variant has been reported in two studies in which it is found in a total of two patients in a compound heterozygous state with either a deletion or a stop-gained variant as the second allele (Callewaert et al. 2008; Takahashi et al. 2013). Control data are unavailable for this variant, which is reported at a frequency of 0.0000145 in the total population of the Genome Aggregation Database. The evidence for this variant is limited. The c.692G>A (p.Arg231Gln) variant is therefore classified as a variant of unknown significance but suspicious for pathogenicity for arterial tortuosity syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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