ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.37C>A (p.Leu13Ile)

gnomAD frequency: 0.00001  dbSNP: rs150892838
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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 RCV001342553 SCV001536495 uncertain significance Neuronal ceroid lipofuscinosis 7 2022-03-19 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 13 of the MFSD8 protein (p.Leu13Ile). This variant is present in population databases (rs150892838, gnomAD 0.005%). 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: 1039136). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV003375237 SCV004093279 uncertain significance Inborn genetic diseases 2023-08-21 criteria provided, single submitter clinical testing The c.37C>A (p.L13I) alteration is located in exon 2 (coding exon 1) of the MFSD8 gene. This alteration results from a C to A substitution at nucleotide position 37, causing the leucine (L) at amino acid position 13 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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