ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.848C>A (p.Ala283Asp) (rs145994112)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620419 SCV000739653 uncertain significance Cardiovascular phenotype 2017-01-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000197827 SCV000250739 likely pathogenic not provided 2018-01-31 criteria provided, single submitter clinical testing The A283D variant in the SLC2A10 gene has been reported previously, along with a SLC2A10 frameshift variant, in a female child with arterial tortuosity syndrome, atrial septal defect, inguinal hernia, and corneal thinning (Hardin et al., 2018). This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The A283D variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. We interpret A283D as a likely pathogenic variant.
Invitae RCV000685755 SCV000813252 uncertain significance Arterial tortuosity syndrome 2018-05-25 criteria provided, single submitter clinical testing This sequence change replaces alanine with aspartic acid at codon 283 of the SLC2A10 protein (p.Ala283Asp). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and aspartic acid. This variant is present in population databases (rs145994112, ExAC 0.01%). This variant has not been reported in the literature in individuals with SLC2A10-related disease. ClinVar contains an entry for this variant (Variation ID: 213748). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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