ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.1228T>C (p.Tyr410His)

gnomAD frequency: 0.00001  dbSNP: rs777361767
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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 RCV001987763 SCV002218916 uncertain significance Neuronal ceroid lipofuscinosis 7 2022-08-01 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 410 of the MFSD8 protein (p.Tyr410His). This variant is present in population databases (rs777361767, gnomAD 0.006%). 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: 1446647). 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 tolerated. 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 RCV002361286 SCV002665363 uncertain significance Inborn genetic diseases 2017-06-15 criteria provided, single submitter clinical testing The p.Y410H variant (also known as c.1228T>C), located in coding exon 11 of the MFSD8 gene, results from a T to C substitution at nucleotide position 1228. The tyrosine at codon 410 is replaced by histidine, an amino acid with 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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