ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.1270G>A (p.Val424Met)

gnomAD frequency: 0.00001  dbSNP: rs910297451
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001234179 SCV001406811 uncertain significance Neuronal ceroid lipofuscinosis 7 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 424 of the MFSD8 protein (p.Val424Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with MFSD8-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV003284092 SCV003963216 uncertain significance Inborn genetic diseases 2023-04-25 criteria provided, single submitter clinical testing The c.1270G>A (p.V424M) alteration is located in exon 12 (coding exon 11) of the MFSD8 gene. This alteration results from a G to A substitution at nucleotide position 1270, causing the valine (V) at amino acid position 424 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001836190 SCV002084761 uncertain significance Late-infantile neuronal ceroid lipofuscinosis 2021-05-19 no assertion criteria provided clinical testing

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