ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.235G>T (p.Val79Phe)

dbSNP: rs749244700
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318662 SCV000849924 uncertain significance Inborn genetic diseases 2016-04-11 criteria provided, single submitter clinical testing The p.V79F variant (also known as c.235G>T), located in coding exon 4 of the MFSD8 gene, results from a G to T substitution at nucleotide position 235. The valine at codon 79 is replaced by phenylalanine, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002533032 SCV003330548 uncertain significance Neuronal ceroid lipofuscinosis 7 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 79 of the MFSD8 protein (p.Val79Phe). This variant is present in population databases (rs749244700, gnomAD 0.006%). 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: 589239). 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.

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