ClinVar Miner

Submissions for variant NM_020361.5(CPA6):c.61T>A (p.Phe21Ile)

gnomAD frequency: 0.00024  dbSNP: rs147067921
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000353554 SCV000340269 uncertain significance not provided 2016-03-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001479601 SCV001683905 likely benign Febrile seizures, familial, 11 2023-08-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021208 SCV003878528 uncertain significance not specified 2023-02-10 criteria provided, single submitter clinical testing The c.61T>A (p.F21I) alteration is located in exon 1 (coding exon 1) of the CPA6 gene. This alteration results from a T to A substitution at nucleotide position 61, causing the phenylalanine (F) at amino acid position 21 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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