ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.1310C>A (p.Ser437Tyr)

dbSNP: rs1464046484
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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 RCV001327341 SCV001518413 uncertain significance Neuronal ceroid lipofuscinosis 7 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces serine with tyrosine at codon 437 of the MFSD8 protein (p.Ser437Tyr). The serine residue is moderately conserved and there is a large physicochemical difference between serine 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; 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.
Natera, Inc. RCV001830386 SCV002084758 uncertain significance Late-infantile neuronal ceroid lipofuscinosis 2020-05-12 no assertion criteria provided clinical testing

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