ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.1573del (p.Gln525fs)

dbSNP: rs2123074215
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001372501 SCV001569169 uncertain significance Arterial tortuosity syndrome 2020-09-10 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with SLC2A10-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a frameshift in the SLC2A10 gene (p.Gln525Argfs*72). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 17 amino acids of the SLC2A10 protein and extend the protein by an additional 54 amino acids.

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