Submissions for variant NM_014921.5(ADGRL1):c.3329C>G (p.Ser1110Cys)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002855165	SCV003626480	uncertain significance	Inborn genetic diseases	2022-06-24	criteria provided, single submitter	clinical testing	The c.3344C>G (p.S1115C) alteration is located in exon 20 (coding exon 19) of the ADGRL1 gene. This alteration results from a C to G substitution at nucleotide position 3344, causing the serine (S) at amino acid position 1115 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	RCV005059320	SCV005690568	uncertain significance	Developmental delay, behavioral abnormalities, and neuropsychiatric disorders	2025-01-20	criteria provided, single submitter	clinical testing	A heterozygous missense variant in exon 19 of the ADGRL1 gene that results in the amino acid substitution of Cysteine for Serine at codon 1110 was detected. The observed variant c.3329C>G (p.Ser1110Cys) has not been reported in the 1000 genomes and has a MAF of 0.0008% in the gnomAD databases. The in-silico prediction of the variant is deleterious by MutationTaster2 and DANN. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.