Submissions for variant NM_201525.4(ADGRG1):c.1010dup (p.Gln338fs)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Neuberg Centre For Genomic Medicine, NCGM	RCV002510612	SCV002820093	likely pathogenic	Bilateral frontoparietal polymicrogyria		criteria provided, single submitter	clinical testing	The frameshift duplication p.Q338Tfs*14 in ADGRG1 (NM_005682.7) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Q338Tfs*14 variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.
Neuberg Centre For Genomic Medicine, NCGM	RCV003340499	SCV004047876	likely pathogenic	Polymicrogyria, bilateral perisylvian, autosomal recessive		criteria provided, single submitter	clinical testing	The c.1010dup (p.Gln338ThrfsTer14) frameshift variant in ADGRG1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Gln338ThrfsTer14 variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant causes a frameshift starting with codon Glutamine 338, changes this amino acid to Threonine residue, and creates a premature Stop codon at position 14 of the new reading frame, denoted p.Gln338ThrfsTer14. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.
OMIM	RCV002510612	SCV004035033	pathogenic	Bilateral frontoparietal polymicrogyria	2023-09-12	no assertion criteria provided	literature only