ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.1036G>A (p.Val346Ile)

gnomAD frequency: 0.00001  dbSNP: rs746209973
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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 RCV000817206 SCV000957755 uncertain significance Neuronal ceroid lipofuscinosis 7 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 346 of the MFSD8 protein (p.Val346Ile). This variant is present in population databases (rs746209973, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with MFSD8-related conditions. ClinVar contains an entry for this variant (Variation ID: 660078). 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 isoleucine 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.
Natera, Inc. RCV001830792 SCV002084771 uncertain significance Late-infantile neuronal ceroid lipofuscinosis 2020-02-25 no assertion criteria provided clinical testing

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