ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.1178A>T (p.Asp393Val)

dbSNP: rs762336516
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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 RCV001933654 SCV002204048 uncertain significance Neuronal ceroid lipofuscinosis 7 2022-02-01 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 393 of the MFSD8 protein (p.Asp393Val). This variant is present in population databases (rs762336516, gnomAD 0.006%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; 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.
Ambry Genetics RCV002560547 SCV003683928 uncertain significance Inborn genetic diseases 2022-12-28 criteria provided, single submitter clinical testing The c.1178A>T (p.D393V) alteration is located in exon 12 (coding exon 11) of the MFSD8 gene. This alteration results from a A to T substitution at nucleotide position 1178, causing the aspartic acid (D) at amino acid position 393 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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