ClinVar Miner

Submissions for variant NM_003051.4(SLC16A1):c.1367A>T (p.Glu456Val)

gnomAD frequency: 0.00021  dbSNP: rs554138665
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001100247 SCV001256760 uncertain significance Exercise-induced hyperinsulinism 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV002554962 SCV003271094 uncertain significance not provided 2023-11-07 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 456 of the SLC16A1 protein (p.Glu456Val). This variant is present in population databases (rs554138665, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SLC16A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 875941). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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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