ClinVar Miner

Submissions for variant NM_152424.4(AMER1):c.2029T>C (p.Ser677Pro)

gnomAD frequency: 0.00001  dbSNP: rs201053898
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000937066 SCV001082841 benign not provided 2023-06-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002544518 SCV003725370 uncertain significance Inborn genetic diseases 2022-04-14 criteria provided, single submitter clinical testing The c.2029T>C (p.S677P) alteration is located in exon 2 (coding exon 1) of the AMER1 gene. This alteration results from a T to C substitution at nucleotide position 2029, causing the serine (S) at amino acid position 677 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003141898 SCV003826210 uncertain significance Osteopathia striata with cranial sclerosis 2022-08-03 criteria provided, single submitter clinical testing

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