ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.37C>T (p.Leu13Phe)

dbSNP: rs150892838
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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 RCV000688569 SCV000816187 uncertain significance Neuronal ceroid lipofuscinosis 7 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 13 of the MFSD8 protein (p.Leu13Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). 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: 568268). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. RCV001829904 SCV002084813 uncertain significance Late-infantile neuronal ceroid lipofuscinosis 2020-08-29 no assertion criteria provided clinical testing

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