ClinVar Miner

Submissions for variant NM_003183.6(ADAM17):c.2300G>A (p.Ser767Asn)

gnomAD frequency: 0.00001  dbSNP: rs751381392
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000698290 SCV000826946 uncertain significance Inflammatory skin and bowel disease, neonatal, 1 2023-12-07 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 767 of the ADAM17 protein (p.Ser767Asn). This variant is present in population databases (rs751381392, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with ADAM17-related conditions. ClinVar contains an entry for this variant (Variation ID: 575937). 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.
Ambry Genetics RCV004609499 SCV005105173 uncertain significance Inborn genetic diseases 2024-05-02 criteria provided, single submitter clinical testing The c.2300G>A (p.S767N) alteration is located in exon 19 (coding exon 19) of the ADAM17 gene. This alteration results from a G to A substitution at nucleotide position 2300, causing the serine (S) at amino acid position 767 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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