ClinVar Miner

Submissions for variant NM_138361.5(LRSAM1):c.586G>A (p.Gly196Ser) (rs148059394)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000237057 SCV000292609 uncertain significance not provided 2017-12-15 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the LRSAM1 gene. The G196S variant hasnot been published as a pathogenic variant, nor has it been reported as a benign variant to ourknowledge. The G196S variant is observed in 40/33320 (0.1%) alleles from individuals of Latinobackground in large population cohorts (Lek et al., 2016). The G196S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ inpolarity, charge, size and/or other properties. In-silico analyses, including protein predictors andevolutionary conservation, support a deleterious effect. However, this variant is not predicted to affect the RING domain. Therefore, based on the currently available information, it is unclear whetherthis variant is a pathogenic variant or a rare benign variant.
Invitae RCV000237057 SCV000547856 likely benign not provided 2019-03-01 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000237057 SCV001155725 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing

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