ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.1006G>A (p.Glu336Lys)

dbSNP: rs150418024
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000334238 SCV000336759 uncertain significance not provided 2015-11-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001219362 SCV001391297 uncertain significance Neuronal ceroid lipofuscinosis 7 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 336 of the MFSD8 protein (p.Glu336Lys). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 284230). 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: "Tolerated"; PolyPhen-2: "Probably 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. RCV001833332 SCV002084773 uncertain significance Late-infantile neuronal ceroid lipofuscinosis 2020-02-26 no assertion criteria provided clinical testing

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