ClinVar Miner

Submissions for variant NM_014866.2(SEC16A):c.3284A>G (p.Asn1095Ser)

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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 RCV004340206 SCV004060759 uncertain significance not specified 2023-07-25 criteria provided, single submitter clinical testing The c.3284A>G (p.N1095S) alteration is located in exon 3 (coding exon 1) of the SEC16A gene. This alteration results from a A to G substitution at nucleotide position 3284, causing the asparagine (N) at amino acid position 1095 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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