ClinVar Miner

Submissions for variant NM_003183.6(ADAM17):c.94C>G (p.Leu32Val)

gnomAD frequency: 0.00001  dbSNP: rs779147649
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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 RCV001053642 SCV001217915 uncertain significance Inflammatory skin and bowel disease, neonatal, 1 2019-12-22 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with ADAM17-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces leucine with valine at codon 32 of the ADAM17 protein (p.Leu32Val). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and valine.

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