ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3404C>A (p.Ser1135Tyr) (rs376688581)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036109 SCV000059761 uncertain significance not specified 2014-08-11 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ser1135Tyr vari ant in MYO7A has not been previously reported in individuals with hearing loss, but has been identified in 2/8402 of European American chromosomes by the NHLBI Exome Sequencing Project (; dbSNP rs376688581). Serine (Ser) at position 1135 is not conserved in mammals or evolutionarily dis tant species, raising the possibility that a change at this position may be tole rated. Additional computational prediction tools suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, while the clinical significance of the Ser1135Ty r variant is uncertain, these data suggest that it is more likely to be benign.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725729 SCV000338924 uncertain significance not provided 2016-01-08 criteria provided, single submitter clinical testing
Invitae RCV000725729 SCV001049341 benign not provided 2020-11-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271745 SCV001453171 uncertain significance Usher syndrome, type 1B 2020-04-16 no assertion criteria provided clinical testing

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