ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.578T>A (p.Leu193His)

dbSNP: rs914063167
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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 RCV001068221 SCV001233318 uncertain significance Neuronal ceroid lipofuscinosis 7 2022-05-08 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with histidine, which is basic and polar, at codon 193 of the MFSD8 protein (p.Leu193His). This variant is not present in population databases (gnomAD no frequency). 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: 861654). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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 RCV002554538 SCV003663881 uncertain significance Inborn genetic diseases 2022-11-18 criteria provided, single submitter clinical testing The c.578T>A (p.L193H) alteration is located in exon 7 (coding exon 6) of the MFSD8 gene. This alteration results from a T to A substitution at nucleotide position 578, causing the leucine (L) at amino acid position 193 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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