ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1178TCT[1] (p.Phe394del)

dbSNP: rs777008062
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410744 SCV000485793 likely pathogenic Pendred syndrome 2016-02-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001202765 SCV001373891 pathogenic not provided 2023-09-13 criteria provided, single submitter clinical testing This variant is present in population databases (rs777008062, gnomAD 0.003%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 370463). This variant is also known as S394del or c.1178delTCT. This variant has been observed in individual(s) with Pendred syndrome (PMID: 11502831, 25372295, 30086623). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant, c.1181_1183del, results in the deletion of 1 amino acid(s) of the SLC26A4 protein (p.Phe394del), but otherwise preserves the integrity of the reading frame.
Baylor Genetics RCV003475947 SCV004204242 pathogenic Autosomal recessive nonsyndromic hearing loss 4 2024-02-02 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796162 SCV005417630 pathogenic Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome criteria provided, single submitter clinical testing PM2_Supporting+PM4+PM3_VeryStrong+PP4+PP1
Fulgent Genetics, Fulgent Genetics RCV004796162 SCV005673620 likely pathogenic Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome 2024-05-14 criteria provided, single submitter clinical testing

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