ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.118G>A (p.Asp40Asn)

gnomAD frequency: 0.00003  dbSNP: rs202114636
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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 RCV003075287 SCV003468778 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-04-23 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 40 of the SDCCAG8 protein (p.Asp40Asn). This variant is present in population databases (rs202114636, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV005266513 SCV005931851 uncertain significance Inborn genetic diseases 2024-12-25 criteria provided, single submitter clinical testing The c.118G>A (p.D40N) alteration is located in exon 2 (coding exon 2) of the SDCCAG8 gene. This alteration results from a G to A substitution at nucleotide position 118, causing the aspartic acid (D) at amino acid position 40 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004736261 SCV005365534 uncertain significance SDCCAG8-related disorder 2024-08-07 no assertion criteria provided clinical testing The SDCCAG8 c.118G>A variant is predicted to result in the amino acid substitution p.Asp40Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0058% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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