ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.541A>G (p.Ile181Val)

dbSNP: rs770057458
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001040139 SCV001203699 uncertain significance Neuronal ceroid lipofuscinosis 7 2022-02-24 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 181 of the MFSD8 protein (p.Ile181Val). This variant is not present in population databases (gnomAD no frequency). 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: 838564). 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.
Ambry Genetics RCV003243414 SCV003941213 uncertain significance Inborn genetic diseases 2023-04-20 criteria provided, single submitter clinical testing The c.541A>G (p.I181V) alteration is located in exon 6 (coding exon 5) of the MFSD8 gene. This alteration results from a A to G substitution at nucleotide position 541, causing the isoleucine (I) at amino acid position 181 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001827240 SCV002084794 uncertain significance Late-infantile neuronal ceroid lipofuscinosis 2020-09-16 no assertion criteria provided clinical testing

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