Submissions for variant NM_201525.4(ADGRG1):c.760C>T (p.Arg254Trp)

gnomAD frequency: 0.00014  dbSNP: rs368130981

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001121160	SCV001279718	uncertain significance	Bilateral frontoparietal polymicrogyria	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx	RCV001577503	SCV001804892	uncertain significance	not provided	2019-04-24	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp	RCV001577503	SCV003447216	likely benign	not provided	2024-03-14	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001121160	SCV002089395	uncertain significance	Bilateral frontoparietal polymicrogyria	2020-02-13	no assertion criteria provided	clinical testing