ClinVar Miner

Submissions for variant NM_000233.4(LHCGR):c.517A>T (p.Asn173Tyr)

dbSNP: rs1064796475
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481447 SCV000573239 uncertain significance not provided 2017-02-16 criteria provided, single submitter clinical testing The N173Y variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The N173Y variant is not observed in large population cohorts (Lek et al., 2016; Exome Variant Server). The N173Y variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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