ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10013C>T (p.Ser3338Leu)

dbSNP: rs746870063
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000607107 SCV000713841 uncertain significance not specified 2018-01-25 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ser3338Leu va riant in USH2A has not been previously reported in individuals with hearing loss or Usher syndrome and was absent from large population studies. Serine (Ser) at position 3338 is not conserved in mammals or evolutionarily distant species and 2 mammals (white rhinoceros and hedgehog) carry a leucine (Leu) at this positio n, raising the possibility that this change may be tolerated. Additional computa tional prediction tools support that the variant may not impact the protein, tho ugh this information is not predictive enough to rule out pathogenicity. In summ ary, while the clinical significance of the p.Ser3338Leu variant is uncertain, t hese data suggest that it is more likely to be benign. ACMG/AMP Criteria applied : PM2; BP4.
Ambry Genetics RCV003258887 SCV003946855 uncertain significance Inborn genetic diseases 2023-03-24 criteria provided, single submitter clinical testing The c.10013C>T (p.S3338L) alteration is located in exon 51 (coding exon 50) of the USH2A gene. This alteration results from a C to T substitution at nucleotide position 10013, causing the serine (S) at amino acid position 3338 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003451379 SCV004182609 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001829717 SCV004182610 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829717 SCV002088373 uncertain significance Usher syndrome type 2A 2021-09-17 no assertion criteria provided clinical testing

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