ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.740A>G (p.Tyr247Cys)

gnomAD frequency: 0.00002  dbSNP: rs768745973
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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 RCV000756643 SCV000884519 uncertain significance not provided 2018-03-04 criteria provided, single submitter clinical testing The SLC26A2 c.740A>G; p.Tyr247Cys variant (rs768745973), to our knowledge, is not reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.002% (identified on 5 out of 246,106 chromosomes). The tyrosine at position 247 is highly conserved, considering 12 species, and computational analyses of the effects of the p.Tyr247Cys variant on protein structure and function predict a deleterious effect (SIFT: damaging, PolyPhen-2: probably damaging). Based on the available information, the clinical significance of the p.Tyr247Cys variant cannot be determined with certainty.
Natera, Inc. RCV001835949 SCV002081851 uncertain significance Achondrogenesis, type IB 2019-11-11 no assertion criteria provided clinical testing

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