ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.830G>A (p.Ser277Asn)

gnomAD frequency: 0.00003  dbSNP: rs748095080
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000654847 SCV000776749 likely benign Charcot-Marie-Tooth Neuropathy X 2023-10-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002424550 SCV002681962 uncertain significance Inborn genetic diseases 2022-03-25 criteria provided, single submitter clinical testing The p.S277N variant (also known as c.830G>A), located in coding exon 1 of the GJB1 gene, results from a G to A substitution at nucleotide position 830. The serine at codon 277 is replaced by asparagine, an amino acid with highly similar properties. Based on data from the Genome Aggregation Database (gnomAD), the A allele has an overall frequency of approximately 0.004% (6/138854) total alleles studied, including a total of 3 hemizygotes. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Athena Diagnostics RCV003482293 SCV004229564 uncertain significance not provided 2022-09-23 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with clinical features associated with this gene. Computational tools predict that this variant is not damaging.
Natera, Inc. RCV001271692 SCV001453017 likely benign Charcot-Marie-Tooth disease 2019-10-28 no assertion criteria provided clinical testing

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