ClinVar Miner

Submissions for variant NM_017541.4(CRYGS):c.39C>A (p.Asp13Glu)

gnomAD frequency: 0.00032  dbSNP: rs147971015
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000872036 SCV001013786 benign Cataract 20 multiple types 2022-10-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027802 SCV004851650 uncertain significance Inborn genetic diseases 2023-10-03 criteria provided, single submitter clinical testing The c.39C>A (p.D13E) alteration is located in exon 2 (coding exon 2) of the CRYGS gene. This alteration results from a C to A substitution at nucleotide position 39, causing the aspartic acid (D) at amino acid position 13 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004716620 SCV005305179 benign not provided criteria provided, single submitter not provided

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