ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.4995G>T (p.Lys1665Asn) (rs1553761113)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Stewart Lab,University of Birmingham RCV000677226 SCV000803364 likely pathogenic Seckel syndrome 1 no assertion criteria provided research Identified in a patient with Seckel Syndrome, SCKL1. Associated with a reduction in ATR protein expression in patient-derived cells. Causes p.Lys1665Asn missense mutation. However it is likely that this mutation disrupts mRNA splicing. The second ATR gene mutation inherited in this individual is NC_000003.12:g.142568059T>C.

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