Submissions for variant NM_138382.3(RIPPLY1):c.362A>G (p.Asn121Ser)

gnomAD frequency: 0.00094  dbSNP: rs41306259

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000900113	SCV001044416	likely benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004028499	SCV005014268	uncertain significance	not specified	2021-09-15	criteria provided, single submitter	clinical testing	The c.362A>G (p.N121S) alteration is located in exon 4 (coding exon 4) of the RIPPLY1 gene. This alteration results from a A to G substitution at nucleotide position 362, causing the asparagine (N) at amino acid position 121 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics	RCV000900113	SCV005206665	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000900113	SCV001798301	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000900113	SCV001928371	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003950547	SCV004770598	likely benign	RIPPLY1-related disorder	2022-10-27	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).