Submissions for variant NM_021930.6(RINT1):c.310C>T (p.Arg104Ter)

dbSNP: rs777242801

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000813786	SCV000954158	pathogenic	not provided	2023-11-11	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg104*) in the RINT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RINT1 are known to be pathogenic (PMID: 31204009). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with RINT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 657219). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics	RCV004028800	SCV003861121	uncertain significance	not specified	2023-02-02	criteria provided, single submitter	clinical testing	The p.R104* variant (also known as c.310C>T), located in coding exon 4 of the RINT1 gene, results from a C to T substitution at nucleotide position 310. This changes the amino acid from an arginine to a stop codon within coding exon 4. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
CeGaT Center for Human Genetics Tuebingen	RCV000813786	SCV004155728	uncertain significance	not provided	2022-05-01	criteria provided, single submitter	clinical testing	RINT1: PM2