ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.1516C>G (p.Leu506Val)

gnomAD frequency: 0.00002  dbSNP: rs570757797
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000336514 SCV000447464 uncertain significance Neuronal Ceroid-Lipofuscinosis, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002523463 SCV003497960 uncertain significance Neuronal ceroid lipofuscinosis 7 2022-04-23 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 506 of the MFSD8 protein (p.Leu506Val). This variant is present in population databases (rs570757797, gnomAD 0.08%). 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: 347540). 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: "Deleterious"; PolyPhen-2: "Probably 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 RCV004948265 SCV005446605 uncertain significance Inborn genetic diseases 2024-07-10 criteria provided, single submitter clinical testing The c.1516C>G (p.L506V) alteration is located in exon 13 (coding exon 12) of the MFSD8 gene. This alteration results from a C to G substitution at nucleotide position 1516, causing the leucine (L) at amino acid position 506 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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