ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.1273A>G (p.Asn425Asp)

dbSNP: rs104893920
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001851641 SCV002240090 pathogenic Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 2023-06-08 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects SLC26A2 function (PMID: 11448940). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SLC26A2 protein function. ClinVar contains an entry for this variant (Variation ID: 4093). This missense change has been observed in individual(s) with diastrophic dysplasia (PMID: 8528239, 9342225, 21155763). This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 425 of the SLC26A2 protein (p.Asn425Asp).
Fulgent Genetics, Fulgent Genetics RCV001851641 SCV002780742 likely pathogenic Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 2021-08-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV000023569 SCV005056821 likely pathogenic Achondrogenesis, type IB 2024-01-08 criteria provided, single submitter clinical testing
OMIM RCV000023569 SCV000044860 pathogenic Achondrogenesis, type IB 1996-01-01 no assertion criteria provided literature only
GeneReviews RCV000055757 SCV000086697 not provided Diastrophic dysplasia no assertion provided literature only

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