ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.35C>T (p.Pro12Leu)

gnomAD frequency: 0.00001  dbSNP: rs749496400
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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 RCV002537787 SCV003469846 uncertain significance Neuronal ceroid lipofuscinosis 7 2023-08-30 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 12 of the MFSD8 protein (p.Pro12Leu). This variant is present in population databases (rs749496400, gnomAD 0.007%). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 990259). This variant has not been reported in the literature in individuals affected with MFSD8-related conditions.
Natera, Inc. RCV001278245 SCV001465243 uncertain significance Late-infantile neuronal ceroid lipofuscinosis 2020-08-14 no assertion criteria provided clinical testing

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