ClinVar Miner

Submissions for variant NM_000558.3(HBA1):c.142G>A (p.Asp48Asn) (rs34269448)

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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 RCV001286873 SCV001473494 uncertain significance none provided 2019-09-13 criteria provided, single submitter clinical testing The Hb Arya variant (HBA1: c.142G>A; p.Asp48Asn, also known as Asp47Asn when numbered from the mature protein, rs34269448) is reported in the literature in the heterozygous state with no clinical symptoms, and is considered mildly unstable (see link to HbVar and references therein). This variant is reported in ClinVar (Variation ID: 15699), and is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The aspartic acid at codon 48 is highly conserved, and computational analyses (SIFT: damaging, PolyPhen-2: benign) predict conflicting effects of this variant on protein structure/function, although these are low confidence predictions. Due to limited information, the clinical significance of the Hb Arya variant is uncertain at this time. References: Link to HbVar for Hb Arya: http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=66&.cgifields=histD
OMIM RCV000016991 SCV000037263 other HEMOGLOBIN ARYA 2016-07-20 no assertion criteria provided literature only

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