ClinVar Miner

Submissions for variant NM_001142730.3(KCTD1):c.220G>T (p.Asp74Tyr)

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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 RCV004195876 SCV003695657 uncertain significance not specified 2022-10-06 criteria provided, single submitter clinical testing The c.220G>T (p.D74Y) alteration is located in exon 1 (coding exon 1) of the KCTD1 gene. This alteration results from a G to T substitution at nucleotide position 220, causing the aspartic acid (D) at amino acid position 74 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005021742 SCV005652428 likely benign Scalp-ear-nipple syndrome 2024-05-29 criteria provided, single submitter clinical testing

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