ClinVar Miner

Submissions for variant NM_021267.5(CERS1):c.250C>A (p.Pro84Thr)

gnomAD frequency: 0.00002  dbSNP: rs755371379
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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 RCV000797753 SCV000937332 uncertain significance Progressive myoclonic epilepsy type 8 2021-08-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004897655 SCV005554329 uncertain significance not specified 2024-08-19 criteria provided, single submitter clinical testing The c.250C>A (p.P84T) alteration is located in exon 2 (coding exon 2) of the CERS1 gene. This alteration results from a C to A substitution at nucleotide position 250, causing the proline (P) at amino acid position 84 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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