ClinVar Miner

Submissions for variant NM_152778.3(MFSD8):c.929G>A (p.Gly310Asp) (rs118203975)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000001056 SCV001201216 uncertain significance Neuronal ceroid lipofuscinosis 7 2019-04-11 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 variant has been observed in multiple individuals affected with neuronal ceroid lipofuscinosis (PMID: 17564970, 19177532). ClinVar contains an entry for this variant (Variation ID: 1001). This variant has been reported not to substantially affect MFSD8 protein function (PMID: 22668694, 17564970). 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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