ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.235G>C (p.Val79Leu)

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
Labcorp Genetics (formerly Invitae), Labcorp RCV002033046 SCV002115173 uncertain significance Neuronal ceroid lipofuscinosis 7 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 79 of the MFSD8 protein (p.Val79Leu). This variant is present in population databases (rs749244700, gnomAD 0.02%). 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: 1347231). 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: "Benign"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Ambry Genetics RCV002458644 SCV002735743 uncertain significance Inborn genetic diseases 2018-07-27 criteria provided, single submitter clinical testing The p.V79L variant (also known as c.235G>C), located in coding exon 4 of the MFSD8 gene, results from a G to C substitution at nucleotide position 235. The valine at codon 79 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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