ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.1234G>A (p.Val412Ile)

gnomAD frequency: 0.00043  dbSNP: rs201714602
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000805701 SCV000945667 likely benign Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 2025-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV003166250 SCV003871620 uncertain significance Inborn genetic diseases 2023-02-06 criteria provided, single submitter clinical testing The c.1234G>A (p.V412I) alteration is located in exon 3 (coding exon 2) of the SLC26A2 gene. This alteration results from a G to A substitution at nucleotide position 1234, causing the valine (V) at amino acid position 412 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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