ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.886G>A (p.Asp296Asn)

gnomAD frequency: 0.00054  dbSNP: rs147295085
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724371 SCV000225102 uncertain significance not provided 2014-12-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000461290 SCV000548720 uncertain significance Neuronal ceroid lipofuscinosis 7 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 296 of the MFSD8 protein (p.Asp296Asn). This variant is present in population databases (rs147295085, gnomAD 0.2%). 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: 193764). 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.
GeneDx RCV000724371 SCV000617146 uncertain significance not provided 2024-05-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002316999 SCV000851115 uncertain significance Inborn genetic diseases 2021-07-27 criteria provided, single submitter clinical testing The c.886G>A (p.D296N) alteration is located in exon 10 (coding exon 9) of the MFSD8 gene. This alteration results from a G to A substitution at nucleotide position 886, causing the aspartic acid (D) at amino acid position 296 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001272735 SCV001454993 uncertain significance Late-infantile neuronal ceroid lipofuscinosis 2020-01-02 no assertion criteria provided clinical testing

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