ClinVar Miner

Submissions for variant NM_005235.3(ERBB4):c.1027A>T (p.Met343Leu)

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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 RCV002628849 SCV003516016 uncertain significance not provided 2021-12-21 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ERBB4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 343 of the ERBB4 protein (p.Met343Leu). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function.
Revvity Omics, Revvity RCV003143520 SCV003833557 uncertain significance Amyotrophic lateral sclerosis type 19 2022-02-28 criteria provided, single submitter clinical testing

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