ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.18C>G (p.Asn6Lys)

gnomAD frequency: 0.00003  dbSNP: rs771879274
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000684990 SCV000812458 uncertain significance Neuronal ceroid lipofuscinosis 7 2022-05-17 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 6 of the MFSD8 protein (p.Asn6Lys). This variant is present in population databases (rs771879274, gnomAD 0.1%). 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: 565428). 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.
Genome-Nilou Lab RCV000684990 SCV001712368 uncertain significance Neuronal ceroid lipofuscinosis 7 2021-05-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002544709 SCV003719648 uncertain significance Inborn genetic diseases 2021-12-21 criteria provided, single submitter clinical testing The c.18C>G (p.N6K) alteration is located in exon 2 (coding exon 1) of the MFSD8 gene. This alteration results from a C to G substitution at nucleotide position 18, causing the asparagine (N) at amino acid position 6 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001830479 SCV002084816 uncertain significance Late-infantile neuronal ceroid lipofuscinosis 2019-10-28 no assertion criteria provided clinical testing

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