ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.104G>A (p.Arg35Gln)

gnomAD frequency: 0.00001  dbSNP: rs146596875
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002313681 SCV000848910 uncertain significance Inborn genetic diseases 2017-02-03 criteria provided, single submitter clinical testing The p.R35Q variant (also known as c.104G>A), located in coding exon 2 of the MFSD8 gene, results from a G to A substitution at nucleotide position 104. The arginine at codon 35 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly 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 alteration remains unclear.
Invitae RCV001862043 SCV002111987 uncertain significance Neuronal ceroid lipofuscinosis 7 2022-09-07 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 35 of the MFSD8 protein (p.Arg35Gln). This variant is present in population databases (rs146596875, gnomAD 0.002%). 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: 588744). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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.
Mendelics RCV002249438 SCV002518240 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830591 SCV002084811 uncertain significance Late-infantile neuronal ceroid lipofuscinosis 2021-07-13 no assertion criteria provided clinical testing

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