ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.7993C>T (p.Arg2665Cys)

gnomAD frequency: 0.00003  dbSNP: rs201881549
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002175899 SCV002474890 benign not provided 2024-07-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004958476 SCV005496067 uncertain significance Inborn genetic diseases 2024-09-30 criteria provided, single submitter clinical testing The c.7993C>T (p.R2665C) alteration is located in exon 18 (coding exon 18) of the ASPM gene. This alteration results from a C to T substitution at nucleotide position 7993, causing the arginine (R) at amino acid position 2665 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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