Submissions for variant NM_000187.4(HGD):c.221A>T (p.Glu74Val)

gnomAD frequency: 0.00027  dbSNP: rs141965690

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000882319	SCV001025550	benign	Alkaptonuria	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000882319	SCV001307207	benign	Alkaptonuria	2017-06-12	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Fulgent Genetics, Fulgent Genetics	RCV000882319	SCV002796692	likely benign	Alkaptonuria	2021-09-22	criteria provided, single submitter	clinical testing
GeneDx	RCV003225134	SCV003921464	uncertain significance	not provided	2022-10-31	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
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences	RCV000882319	SCV004101018	pathogenic	Alkaptonuria		no assertion criteria provided	research	The variant was originally described in AKU patient in PMID:23092576. It has been submitted to the HGD gene mutation database (http://hgddatabase.cvtisr.sk/, DB-ID: AKU_00256).