ClinVar Miner

Submissions for variant NM_001142459.2(ASB10):c.731G>A (p.Arg244His)

dbSNP: rs104886476
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001358001 SCV003262149 benign not provided 2022-08-09 criteria provided, single submitter clinical testing
Casey Eye Institute Glaucoma Genetics Lab RCV000086413 SCV000118560 not provided Glaucoma 1, open angle, F no assertion provided not provided
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001358001 SCV001553624 uncertain significance not provided no assertion criteria provided clinical testing The ASB10 p.R244H variant was not identified in the literature but was identified in dbSNP (ID: rs104886476) and in ClinVar (classification not provided by Casey Eye Institute Glaucoma Genetics Lab). The variant was identified in control databases in 117 of 280842 chromosomes (1 homozygous) at a frequency of 0.0004166, and was observed at the highest frequency in the East Asian population in 98 of 19898 chromosomes (1 homozygous) (freq: 0.004925) (Genome Aggregation Database March 6, 2019, v2.1.1). The p.R244 residue is not conserved in mammals and computational analyses (MUT Assesor, PolyPhen-2, SIFT, MutationTaster, Revel, FATHMM, MetaLR, DANN) provide inconsistent predictions regarding the impact to the protein; this information is not very predictive of pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (Splice AI exome) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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