ClinVar Miner

Submissions for variant NM_201525.4(ADGRG1):c.157G>C (p.Asp53His)

gnomAD frequency: 0.00001  dbSNP: rs758040938
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001316588 SCV001507218 uncertain significance not provided 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 53 of the ADGRG1 protein (p.Asp53His). This variant is present in population databases (rs758040938, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with ADGRG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1017436). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ADGRG1 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.
GeneDx RCV001316588 SCV002562452 uncertain significance not provided 2022-02-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004609755 SCV005107270 uncertain significance Inborn genetic diseases 2024-06-03 criteria provided, single submitter clinical testing The c.157G>C (p.D53H) alteration is located in exon 4 (coding exon 2) of the ADGRG1 gene. This alteration results from a G to C substitution at nucleotide position 157, causing the aspartic acid (D) at amino acid position 53 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001835571 SCV002089384 uncertain significance Bilateral frontoparietal polymicrogyria 2021-02-26 no assertion criteria provided clinical testing

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