ClinVar Miner

Submissions for variant NM_031454.2(SELENOO):c.1042G>A (p.Asp348Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004663725 SCV005160928 uncertain significance not specified 2024-03-18 criteria provided, single submitter clinical testing The c.1042G>A (p.D348N) alteration is located in exon 4 (coding exon 4) of the SELO gene. This alteration results from a G to A substitution at nucleotide position 1042, causing the aspartic acid (D) at amino acid position 348 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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