ClinVar Miner

Submissions for variant NM_001144967.3(NEDD4L):c.1249A>G (p.Ile417Val)

dbSNP: rs1057524052
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421607 SCV000534414 uncertain significance not provided 2016-12-19 criteria provided, single submitter clinical testing The I397V variant in the NEDD4L gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The I397V variant was not observed in approximately 6200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The I397V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species, however, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, we interpret I397V as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000421607 SCV001197574 benign not provided 2023-09-10 criteria provided, single submitter clinical testing

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