ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.658C>G (p.Leu220Val)

dbSNP: rs142063476
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001337354 SCV001530951 uncertain significance Neuronal ceroid lipofuscinosis 7 2022-03-19 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1034609). This variant has not been reported in the literature in individuals affected with MFSD8-related conditions. This variant is present in population databases (rs142063476, gnomAD 0.007%). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 220 of the MFSD8 protein (p.Leu220Val).

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