ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.1439G>T (p.Gly480Val)

dbSNP: rs2148837121
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002214332 SCV002497286 likely pathogenic not provided 2022-03-01 criteria provided, single submitter clinical testing MFSD8: PM2, PM3, PM5:Supporting, PP4
Neuberg Centre For Genomic Medicine, NCGM RCV004577011 SCV005061184 uncertain significance Neuronal ceroid lipofuscinosis 7 criteria provided, single submitter clinical testing The observed missense variant c.1439G>T (p.Gly480Val) in MFSD8 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Gly480Val variant is absent in gnomAD Exomes database. This variant has been submitted to the ClinVar database as Likely Pathogenic, but no details are available for independent assessment. Multiple lines of computational evidence (SIFT - damaging; Polyphen - probably damaging; MutationTaster - disease causing) predicts a damaging effect on protein structure and function for this variant. The amino acid change p.Gly480Val in MFSD8 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Gly at position 480 is changed to a Val changing protein sequence and it might alter its composition and physico-chemical properties. Additional studies will be required to prove the pathogenicity of this variant. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS). In the absence of another reportable variant in the MFSD8 gene, the molecular diagnosis is not confirmed.

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