ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.1040T>C (p.Val347Ala)

gnomAD frequency: 0.00001  dbSNP: rs1331862351
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001213504 SCV001385138 uncertain significance Neuronal ceroid lipofuscinosis 7 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 347 of the MFSD8 protein (p.Val347Ala). This variant is present in population databases (no rsID available, gnomAD 0.009%). 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: 943332). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. RCV001833870 SCV002084769 uncertain significance Late-infantile neuronal ceroid lipofuscinosis 2020-01-04 no assertion criteria provided clinical testing

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