Submissions for variant NM_001039958.2(MESP2):c.185G>A (p.Arg62Gln)

gnomAD frequency: 0.00041  dbSNP: rs566641514

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000348753	SCV000394377	uncertain significance	Spondylocostal dysostosis 2, autosomal recessive	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000909848	SCV001054676	benign	not provided	2025-01-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002522810	SCV003676107	uncertain significance	Inborn genetic diseases	2023-12-14	criteria provided, single submitter	clinical testing	The c.185G>A (p.R62Q) alteration is located in exon 1 (coding exon 1) of the MESP2 gene. This alteration results from a G to A substitution at nucleotide position 185, causing the arginine (R) at amino acid position 62 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc.	RCV000348753	SCV001456966	benign	Spondylocostal dysostosis 2, autosomal recessive	2020-04-23	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003920337	SCV004735975	likely benign	MESP2-related disorder	2023-06-05	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).