ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.3553G>A (p.Asp1185Asn)

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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 RCV004447180 SCV004945830 uncertain significance Inborn genetic diseases 2023-11-02 criteria provided, single submitter clinical testing The c.3553G>A (p.D1185N) alteration is located in exon 26 (coding exon 26) of the RYR1 gene. This alteration results from a G to A substitution at nucleotide position 3553, causing the aspartic acid (D) at amino acid position 1185 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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