ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.373C>T (p.His125Tyr)

dbSNP: rs1560754109
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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 RCV000696111 SCV000824658 uncertain significance Neuronal ceroid lipofuscinosis 7 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 125 of the MFSD8 protein (p.His125Tyr). The histidine residue is moderately conserved and there is a moderate physicochemical difference between histidine and tyrosine. 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 (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.
Natera, Inc. RCV001825364 SCV002084799 uncertain significance Late-infantile neuronal ceroid lipofuscinosis 2021-05-03 no assertion criteria provided clinical testing

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