ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.566G>A (p.Cys189Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1355954321
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001041717 SCV001205348 uncertain significance Neuronal ceroid lipofuscinosis 7 2022-08-07 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 189 of the MFSD8 protein (p.Cys189Tyr). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 839861). 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: "Tolerated"; PolyPhen-2: "Possibly 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. RCV001271144 SCV001451999 uncertain significance Late-infantile neuronal ceroid lipofuscinosis 2020-09-16 no assertion criteria provided clinical testing

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