ClinVar Miner

Submissions for variant NM_001079843.3(CASZ1):c.1264T>G (p.Phe422Val)

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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 RCV002933015 SCV003263355 likely benign not provided 2024-06-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004067053 SCV003880563 uncertain significance not specified 2023-01-09 criteria provided, single submitter clinical testing The c.1264T>G (p.F422V) alteration is located in exon 6 (coding exon 3) of the CASZ1 gene. This alteration results from a T to G substitution at nucleotide position 1264, causing the phenylalanine (F) at amino acid position 422 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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