ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.116T>A (p.Ile39Asn)

gnomAD frequency: 0.00001  dbSNP: rs140349255
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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 RCV001880253 SCV002254518 uncertain significance Neuronal ceroid lipofuscinosis 7 2022-05-15 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 39 of the MFSD8 protein (p.Ile39Asn). This variant is present in population databases (rs140349255, gnomAD 0.004%). 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: 990258). 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. RCV001278244 SCV001465242 uncertain significance Late-infantile neuronal ceroid lipofuscinosis 2020-06-19 no assertion criteria provided clinical testing

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