ClinVar Miner

Submissions for variant NM_001376013.1(EPB41):c.1039G>A (p.Val347Met)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002908935 SCV003254298 uncertain significance not provided 2021-12-19 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with EPB41-related conditions. This variant is present in population databases (rs182542991, gnomAD 0.08%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 138 of the EPB41 protein (p.Val138Met).
Ambry Genetics RCV002908936 SCV003689983 uncertain significance Inborn genetic diseases 2021-10-29 criteria provided, single submitter clinical testing The c.412G>A (p.V138M) alteration is located in exon 8 (coding exon 5) of the EPB41 gene. This alteration results from a G to A substitution at nucleotide position 412, causing the valine (V) at amino acid position 138 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003485797 SCV004234701 uncertain significance Elliptocytosis 1 2023-02-13 criteria provided, single submitter clinical testing

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