ClinVar Miner

Submissions for variant NM_000031.6(ALAD):c.177G>C (p.Lys59Asn)

gnomAD frequency: 0.05916  dbSNP: rs1800435
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000371179 SCV000476684 benign Porphobilinogen synthase deficiency 2018-03-06 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001509916 SCV001716829 benign not provided 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001509916 SCV001840673 benign not provided 2021-06-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25239657, 16909025, 9593628, 11342419, 11071662)
Mendelics RCV002247353 SCV002516815 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000371179 SCV002813657 likely benign Porphobilinogen synthase deficiency 2022-01-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001509916 SCV005268718 benign not provided criteria provided, single submitter not provided
OMIM RCV000018360 SCV000038639 pathogenic AMINOLEVULINATE DEHYDRATASE, ALAD*1/ALAD*2 POLYMORPHISM 1991-10-01 no assertion criteria provided literature only

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