ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.672C>A (p.Cys224Ter)

gnomAD frequency: 0.00001  dbSNP: rs1223763703
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672382 SCV000797481 likely pathogenic Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A 2018-01-26 criteria provided, single submitter clinical testing
Invitae RCV001055312 SCV001219699 pathogenic not provided 2023-04-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 556381). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 21203349). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Cys224*) in the USH1C gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in USH1C are known to be pathogenic (PMID: 10973247, 17407589, 20301442, 21203349).
Baylor Genetics RCV003459636 SCV004207633 pathogenic Autosomal recessive nonsyndromic hearing loss 18A 2023-09-24 criteria provided, single submitter clinical testing

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