ClinVar Miner

Submissions for variant NM_014866.2(SEC16A):c.6655G>A (p.Ala2219Thr)

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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 RCV004447562 SCV004944407 uncertain significance not specified 2024-02-14 criteria provided, single submitter clinical testing The c.6655G>A (p.A2219T) alteration is located in exon 27 (coding exon 25) of the SEC16A gene. This alteration results from a G to A substitution at nucleotide position 6655, causing the alanine (A) at amino acid position 2219 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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