Submissions for variant NM_014915.3(ANKRD26):c.521C>G (p.Ala174Gly)

gnomAD frequency: 0.00020  dbSNP: rs201818373

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002979544	SCV003293293	likely benign	not provided	2023-11-27	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV002979544	SCV003818633	uncertain significance	not provided	2019-04-10	criteria provided, single submitter	clinical testing
GeneDx	RCV002979544	SCV003933316	uncertain significance	not provided	2024-02-16	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics	RCV004960875	SCV005444571	uncertain significance	Inborn genetic diseases	2024-10-04	criteria provided, single submitter	clinical testing	The p.A174G variant (also known as c.521C>G), located in coding exon 3 of the ANKRD26 gene, results from a C to G substitution at nucleotide position 521. The alanine at codon 174 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.