ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.1168C>G (p.Pro390Ala)

dbSNP: rs767262517
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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 RCV001978850 SCV002226548 uncertain significance Neuronal ceroid lipofuscinosis 7 2022-07-01 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 390 of the MFSD8 protein (p.Pro390Ala). This variant is present in population databases (rs767262517, gnomAD 0.003%). 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: 1440411). 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. 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.

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