ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.412A>G (p.Ser138Gly) (rs397516876)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037850 SCV000061512 likely benign not specified 2011-01-18 criteria provided, single submitter clinical testing Ser138Gly in exon 2 of GJB2: This variant has been reported in the literature af ter identification in one patient with hearing loss; however, a variant on the s econd allele was not found (Picciotti 2009). Computational analyses (PolyPhen, S IFT, AlignGVGD) do not suggest a high likelihood of clinical significance primar ily based upon a lack of evolutionary conservation. Of note, cow and sheep have a glycine at this position despite high nearby amino acid conservation. In summa ry this data suggests that this variant is likely benign.
Mendelics RCV000988960 SCV001138909 benign Deafness, autosomal recessive 1A 2019-05-28 criteria provided, single submitter clinical testing

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