ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.529G>A (p.Ala177Thr)

dbSNP: rs1560751131
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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 RCV000697944 SCV000826578 uncertain significance Neuronal ceroid lipofuscinosis 7 2021-06-19 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with MFSD8-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with threonine at codon 177 of the MFSD8 protein (p.Ala177Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine.
GeneDx RCV003222106 SCV003918692 uncertain significance not provided 2022-10-12 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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