ClinVar Miner

Submissions for variant NM_001830.4(CLCN4):c.1135A>G (p.Ile379Val)

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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 RCV003735974 SCV004551036 benign not provided 2022-12-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004968445 SCV005554196 uncertain significance Inborn genetic diseases 2024-08-04 criteria provided, single submitter clinical testing The c.1135A>G (p.I379V) alteration is located in exon 9 (coding exon 7) of the CLCN4 gene. This alteration results from a A to G substitution at nucleotide position 1135, causing the isoleucine (I) at amino acid position 379 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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