ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1488G>T (p.Leu496Phe)

gnomAD frequency: 0.00001  dbSNP: rs1432354431
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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 RCV002047224 SCV002112851 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-07-25 criteria provided, single submitter clinical testing 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. 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: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1351940). This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 496 of the SDCCAG8 protein (p.Leu496Phe).
Fulgent Genetics, Fulgent Genetics RCV002047224 SCV002782234 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2021-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002545444 SCV003712443 uncertain significance Inborn genetic diseases 2022-06-24 criteria provided, single submitter clinical testing The c.1488G>T (p.L496F) alteration is located in exon 13 (coding exon 13) of the SDCCAG8 gene. This alteration results from a G to T substitution at nucleotide position 1488, causing the leucine (L) at amino acid position 496 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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