Submissions for variant NM_001199799.2(ILDR1):c.1305C>A (p.Ser435Arg)

gnomAD frequency: 0.00116  dbSNP: rs35597690

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000607750	SCV000710887	likely benign	not specified	2017-04-13	criteria provided, single submitter	clinical testing	p.Ser435Arg in exon 7 of ILDR1: This variant is not expected to have clinical si gnificance because it has been identified in 0.25% (315/125942) of European chro mosomes including 2 homozygotes by the Genome Aggregation Database (gnomAD, http ://gnomad.broadinstitute.org; dbSNP rs35597690). Furthermore, this amino acid re sidue is not conserved across species, including mammals. Of note, 7 mammals (pr airie vole, Chinese hamster, golden hamster, mouse, rat, pig, and sheep) have an arginine (Arg) at this position.
GeneDx	RCV000607750	SCV000718717	likely benign	not specified	2017-11-09	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002062115	SCV002431555	benign	not provided	2025-01-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004755985	SCV005367524	likely benign	ILDR1-related disorder	2024-05-01	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).