ClinVar Miner

Submissions for variant NM_015047.3(EMC1):c.1154G>A (p.Arg385Gln)

dbSNP: rs773121209
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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 RCV003343561 SCV004074508 uncertain significance Inborn genetic diseases 2023-06-28 criteria provided, single submitter clinical testing The c.1154G>A (p.R385Q) alteration is located in exon 11 (coding exon 11) of the EMC1 gene. This alteration results from a G to A substitution at nucleotide position 1154, causing the arginine (R) at amino acid position 385 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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