ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.3293A>G (p.Asn1098Ser) (rs876657494)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000222766 SCV000270374 likely benign not specified 2016-04-07 criteria provided, single submitter clinical testing p.Asn1098Ser in exon 21 of LOXHD1: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. O f note, 7 have an serine (Ser) at this position despite high nearby amino acid c onservation. In addition, computational prediction tools do not suggest a high l ikelihood of impact to the protein.

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