ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2833G>A (p.Gly945Ser)

gnomAD frequency: 0.00004  dbSNP: rs774199742
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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 RCV001066318 SCV001231325 likely benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2023-12-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002554488 SCV003536590 uncertain significance Inborn genetic diseases 2022-07-19 criteria provided, single submitter clinical testing The c.2833G>A (p.G945S) alteration is located in exon 23 (coding exon 23) of the CLCN1 gene. This alteration results from a G to A substitution at nucleotide position 2833, causing the glycine (G) at amino acid position 945 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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