ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.180G>C (p.Lys60Asn) (rs34621955)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001409 SCV001158643 uncertain significance not specified 2018-09-13 criteria provided, single submitter clinical testing The HBB c.180G>C; Lys59Asn variant (rs34621955), also known as Hb J-Lome, is reported in the literature in the heterozygous state in individuals with no clinical symptoms (see link to HbVar and references therein). This variant is reported in ClinVar (Variation ID: 15224), and is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The lysine at codon 59 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of the Hb J-Lome variant is uncertain at this time. References: Link to HbVar for Hb J-Lome: http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=1185&.cgifields=histD
OMIM RCV000016421 SCV000036689 other HEMOGLOBIN J (LOME) 2017-12-12 no assertion criteria provided literature only

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