ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.929G>A (p.Gly310Asp)

dbSNP: rs118203975
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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 RCV000001056 SCV001201216 uncertain significance Neuronal ceroid lipofuscinosis 7 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 310 of the MFSD8 protein (p.Gly310Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individuals with neuronal ceroid lipofuscinosis (PMID: 17564970, 19177532). ClinVar contains an entry for this variant (Variation ID: 1001). 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: "Probably Damaging"; Align-GVGD: "Class C15"). Experimental studies have shown that this missense change does not substantially affect MFSD8 function (PMID: 17564970, 22668694). 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.
OMIM RCV000001056 SCV000021206 pathogenic Neuronal ceroid lipofuscinosis 7 2009-03-01 no assertion criteria provided literature only

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