ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13343A>G (p.Asp4448Gly)

gnomAD frequency: 0.00054  dbSNP: rs150532013
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596571 SCV000707535 uncertain significance not provided 2017-04-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000596571 SCV001041975 likely benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004686594 SCV005181330 uncertain significance Inborn genetic diseases 2024-04-04 criteria provided, single submitter clinical testing The c.13343A>G (p.D4448G) alteration is located in exon 63 (coding exon 62) of the USH2A gene. This alteration results from a A to G substitution at nucleotide position 13343, causing the aspartic acid (D) at amino acid position 4448 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001829676 SCV002088268 likely benign Usher syndrome type 2A 2020-07-02 no assertion criteria provided clinical testing

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