ClinVar Miner

Submissions for variant NM_000420.3(KEL):c.1720G>A (p.Ala574Thr)

gnomAD frequency: 0.00003  dbSNP: rs767893228
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004039259 SCV004892163 uncertain significance not specified 2023-10-05 criteria provided, single submitter clinical testing The c.1720G>A (p.A574T) alteration is located in exon 16 (coding exon 16) of the KEL gene. This alteration results from a G to A substitution at nucleotide position 1720, causing the alanine (A) at amino acid position 574 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Australian Red Cross Blood Service RCV001543598 SCV001761658 affects Kell blood group system 2021-07-01 no assertion criteria provided research variable reactions with anti-k antisera.

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