ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1768A>G (p.Thr590Ala)

gnomAD frequency: 0.00001  dbSNP: rs780281311
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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 RCV002011032 SCV002295946 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 590 of the SDCCAG8 protein (p.Thr590Ala). This variant is present in population databases (rs780281311, gnomAD 0.01%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1502586). This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions.
Ambry Genetics RCV002642161 SCV003573690 uncertain significance Inborn genetic diseases 2021-09-02 criteria provided, single submitter clinical testing The c.1768A>G (p.T590A) alteration is located in exon 15 (coding exon 15) of the SDCCAG8 gene. This alteration results from a A to G substitution at nucleotide position 1768, causing the threonine (T) at amino acid position 590 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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