ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.329A>G (p.Asn110Ser)

gnomAD frequency: 0.00001  dbSNP: rs766524233
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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 RCV001925127 SCV002171172 uncertain significance not provided 2021-12-02 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 110 of the MLC1 protein (p.Asn110Ser). This variant is present in population databases (rs766524233, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with MLC1-related conditions. 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 serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002503543 SCV002806779 uncertain significance Megalencephalic leukoencephalopathy with subcortical cysts 1 2021-12-21 criteria provided, single submitter clinical testing

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